P4R (p.Pro4Arg) variant of OCRL (Q01968)
P4R (p.Pro4Arg) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P4R (p.Pro4Arg) variant details
- p.Pro4Arg
- gnomAD X-129540450-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.28
- MetaLR 0.43
- MetaSVM -0.58
- CADD 4.61
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the South Asian population (allele frequency 4e-05)
- Structural context available
- Literature evidence available