H44Y (p.His44Tyr) variant of OPA1 (O60313)
H44Y (p.His44Tyr) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
H44Y (p.His44Tyr) variant details
- p.His44Tyr
- gnomAD 3-193614820-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.18
- CADD 3.15
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the HGDP:MBUTI population (allele frequency 0.96)
- Structural context available
- Literature evidence available