G8V (p.Gly8Val) variant of OCRL (Q01968)
G8V (p.Gly8Val) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G8V (p.Gly8Val) variant details
- p.Gly8Val
- gnomAD X-129540462-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.52
- MetaLR 0.73
- MetaSVM 0.54
- CADD 26.70
- PolyPhen-2 0.76
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available