P11S (p.Pro11Ser) variant of OCRL (Q01968)
P11S (p.Pro11Ser) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- gnomAD X-129540470-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.23
- MetaLR 0.61
- MetaSVM -0.27
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.75
- Population evidence available
- Structural context available
- Literature evidence available