SFTPB p.Phe95=
c.285C>T · rs776398334 · VCV2098731
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00102%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.08 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.1 | GERP -3, phastCons 1 |
| Overall | ||
| CADD | 2.678 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00102%
European (non-Finnish) · 12/1,179,864 alleles
Filtering AF
0.000542%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000428%
Overall
0.000744%
12/1,613,830 alleles · very rare
exomes 12/1,461,650 · genomes 0/152,180 · joint denominator
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- SFTPB
- Protein
- p.Phe95=
- Coding
- c.285C>T
- MANE Select
- NM_000542
- dbSNP
- rs776398334
- Type
- single nucleotide variant
- Location
- chr2:85666725 (GRCh38)
- Gene constraint
- LOEUF 0.846 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 73.31 · 9 PDB
- Residue 95
- the saposin b-type 1 domain
Similar variants
- SFTPB c.195+1G>A Pathogenic/Likely pathogenic ★★ same type
- SFTPB c.582+5G>A Uncertain significance ★★ same type
- SFTPB c.*922G>A Uncertain significance ★★ same type
- SFTPB p.Ala184Pro Uncertain significance ★★ ⚠ same type
- SFTPB p.Arg165Gln Uncertain significance ★★ ⚠ same type
- SFTPB p.Arg217Gln Uncertain significance ★★ ⚠ same type
- SFTPB p.Arg276Gln Uncertain significance ★★ ⚠ same type
- SFTPB p.Arg276Trp Uncertain significance ★★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/sftpb-p-phe95 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown