Q44R (p.Gln44Arg) variant of OCRL (Q01968)
Q44R (p.Gln44Arg) 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.
Q44R (p.Gln44Arg) variant details
- p.Gln44Arg
- gnomAD X-129544969-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.21
- MetaLR 0.55
- MetaSVM -0.50
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available