Y637C (p.Tyr637Cys) variant of OPA1 (O60313)
Y637C (p.Tyr637Cys) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Y637C (p.Tyr637Cys) variant details
- p.Tyr637Cys
- rs1207347731
- ClinGen CA355791106
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10065
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.85
- AlphaMissense 0.89
- MetaLR 0.85
- MetaSVM 0.94
- CADD 28.10
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:OROQEN population (allele frequency 0.12)
- Structural context available