P57S (p.Pro57Ser) variant of OCRL (Q01968)
P57S (p.Pro57Ser) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
P57S (p.Pro57Ser) variant details
- p.Pro57Ser
- gnomAD X-129545007-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.63
- MetaLR 0.74
- MetaSVM 0.52
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available