V7A (p.Val7Ala) variant of OCRL (Q01968)
V7A (p.Val7Ala) 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.
V7A (p.Val7Ala) variant details
- p.Val7Ala
- gnomAD X-129540459-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.24
- MetaLR 0.57
- MetaSVM -0.36
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available