G8R (p.Gly8Arg) variant of OCRL (Q01968)
G8R (p.Gly8Arg) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G8R (p.Gly8Arg) variant details
- p.Gly8Arg
- gnomAD X-129540461-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.46
- MetaLR 0.70
- MetaSVM 0.36
- CADD 32.00
- PolyPhen-2 0.77
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available