P3S (p.Pro3Ser) variant of OCRL (Q01968)
P3S (p.Pro3Ser) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P3S (p.Pro3Ser) variant details
- p.Pro3Ser
- gnomAD X-129540446-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.20
- MetaLR 0.60
- MetaSVM -0.24
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available