P4S (p.Pro4Ser) variant of OCRL (Q01968)
P4S (p.Pro4Ser) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- gnomAD X-129540449-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.27
- MetaLR 0.44
- MetaSVM -0.66
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available