R25W (p.Arg25Trp) variant of OCRL (Q01968)
R25W (p.Arg25Trp) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R25W (p.Arg25Trp) variant details
- p.Arg25Trp
- gnomAD X-129540777-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.54
- MetaLR 0.68
- MetaSVM 0.37
- CADD 24.30
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available