NF1 p.Pro481=
c.1443T>C · rs2143959271 · VCV1772760
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
2
Cardiovascular phenotype
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.5 | GERP 1.8, phastCons 1 |
| Overall | ||
| CADD | 11.38 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- NF1
- Protein
- p.Pro481=
- Coding
- c.1443T>C
- MANE Select
- NM_001042492
- dbSNP
- rs2143959271
- Type
- single nucleotide variant
- Location
- chr17:31214501 (GRCh38)
- Gene constraint
- LOEUF 0.449 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Similar variants
- NF1 p.Pro481Ala Uncertain significance ★ ⚠ same residue
- NF1 p.Pro481Leu Uncertain significance ★ ⚠ same residue
- NF1 c.1062+2T>C Pathogenic/Likely pathogenic ★★ same condition
- NF1 c.1062+3A>G Pathogenic/Likely pathogenic ★★ same condition
- NF1 c.1063-13G>A Pathogenic/Likely pathogenic ★★ same condition
- NF1 c.1063-1G>A Pathogenic/Likely pathogenic ★★ same condition
- NF1 c.1063-2A>C Pathogenic ★★ same condition
- NF1 c.1063-2A>G Pathogenic ★★ same condition
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/nf1-p-pro481 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown