H51Y (p.His51Tyr) variant of OCRL (Q01968)
H51Y (p.His51Tyr) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
H51Y (p.His51Tyr) variant details
- p.His51Tyr
- gnomAD X-129544989-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.25
- MetaLR 0.58
- MetaSVM -0.52
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available