V52A (p.Val52Ala) variant of OCRL (Q01968)
V52A (p.Val52Ala) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V52A (p.Val52Ala) variant details
- p.Val52Ala
- gnomAD X-129544993-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.19
- MetaLR 0.50
- MetaSVM -0.50
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.79
- Population evidence available
- Structural context available
- Literature evidence available