Q44K (p.Gln44Lys) variant of OCRL (Q01968)
Q44K (p.Gln44Lys) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Q44K (p.Gln44Lys) variant details
- p.Gln44Lys
- gnomAD X-129544968-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.22
- MetaLR 0.64
- MetaSVM 0.17
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available