Q50R (p.Gln50Arg) variant of OCRL (Q01968)
Q50R (p.Gln50Arg) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q50R (p.Gln50Arg) variant details
- p.Gln50Arg
- gnomAD X-129544987-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.24
- MetaLR 0.58
- MetaSVM -0.37
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available