E49K (p.Glu49Lys) variant of OCRL (Q01968)
E49K (p.Glu49Lys) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E49K (p.Glu49Lys) variant details
- p.Glu49Lys
- gnomAD X-129544983-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.49
- MetaLR 0.68
- MetaSVM 0.20
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available