A8V (p.Ala8Val) variant of OPA1 (O60313)
A8V (p.Ala8Val) 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 0.48 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- cosmic curated COSV10065
- gnomAD rs910420589
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.38
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: uncertain significance (in OPA1)
- UniProt: Uncertain significance (in OPA1)
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available