A13D (p.Ala13Asp) variant of OCRL (Q01968)
A13D (p.Ala13Asp) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A13D (p.Ala13Asp) variant details
- p.Ala13Asp
- gnomAD X-129540477-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.31
- MetaLR 0.68
- MetaSVM -0.13
- CADD 21.80
- PolyPhen-2 0.05
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available