SRRT p.Leu73Pro
c.218T>C · VCV4589749
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
likely pathogenic
0.8447 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
1/3 damaging
AlphaMissense, REVEL, SaProt
Computational evidence
| Protein change | ||
| AlphaMissense | 0.8447 | likely pathogenic |
|---|---|---|
| REVEL | 0.084 | moderately benign-leaning |
| SaProt | LLR -5.93 | tolerated |
| ⇒ AlphaMissense calls this damaging; REVEL and SaProt do not. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 6.2 | GERP 2.6, phastCons 1 |
| Regional constraint | o/e 0.76 | unconstrained · MANE · 8,778 bp · p 8.1e-06 · regional, not allelic |
| Overall | ||
| CADD | 23.5 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
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
- SRRT
- Protein
- p.Leu73Pro
- Coding
- c.218T>C
- MANE Select
- NM_015908
- Type
- single nucleotide variant
- Location
- chr7:100881380 (GRCh38)
- Gene constraint
- LOEUF 0.404 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 66.61 · 6 PDB
- Residue 73
- the 'disordered' region
Similar variants
- SRRT c.1042-18C>G Benign ★★ same type
- SRRT c.1042-7C>T Benign ★★ same type
- SRRT c.2556-9A>T Benign ★★ same type
- SRRT p.Arg518= Benign ★★ same type
- SRRT p.Glu205= Benign ★★ same type
- SRRT p.Leu157= Benign ★★ same type
- SRRT p.Leu265= Benign ★★ same type
- SRRT p.Ala190Val 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/srrt-p-leu73pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown