H46Y (p.His46Tyr) variant of OCRL (Q01968)
H46Y (p.His46Tyr) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H46Y (p.His46Tyr) variant details
- p.His46Tyr
- gnomAD X-129544974-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.29
- MetaLR 0.56
- MetaSVM -0.39
- CADD 9.95
- PolyPhen-2 0.00
- SIFT 0.96
- Population evidence available
- Structural context available
- Literature evidence available