Q53K (p.Gln53Lys) variant of OCRL (Q01968)
Q53K (p.Gln53Lys) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Q53K (p.Gln53Lys) variant details
- p.Gln53Lys
- gnomAD X-129544995-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.27
- MetaLR 0.67
- MetaSVM 0.24
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available