P3Q (p.Pro3Gln) variant of OCRL (Q01968)
P3Q (p.Pro3Gln) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P3Q (p.Pro3Gln) variant details
- p.Pro3Gln
- gnomAD X-129540447-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.16
- MetaLR 0.59
- MetaSVM -0.13
- CADD 21.90
- PolyPhen-2 0.05
- SIFT 0.04
- Most common in the Ashkenazi Jewish population (allele frequency 5.4e-05)
- Structural context available
- Literature evidence available