A13S (p.Ala13Ser) variant of OCRL (Q01968)
A13S (p.Ala13Ser) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- gnomAD X-129540476-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.29
- MetaLR 0.60
- MetaSVM -0.37
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available