H34Y (p.His34Tyr) variant of OPA1 (O60313)
H34Y (p.His34Tyr) in OPA1 (O60313) is a missense change. Clinical records from ClinVar 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 0.70 / 1. The record also includes population frequency data and structural context.
H34Y (p.His34Tyr) variant details
- p.His34Tyr
- ExAC rs746468712
- gnomAD rs746468712
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.66
- CADD 21.90
- PolyPhen-2 0.97
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.17)
- Structural context available