Q53R (p.Gln53Arg) variant of OCRL (Q01968)
Q53R (p.Gln53Arg) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Q53R (p.Gln53Arg) variant details
- p.Gln53Arg
- gnomAD X-129544996-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.33
- MetaLR 0.68
- MetaSVM 0.44
- CADD 20.80
- PolyPhen-2 0.05
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available