E47K (p.Glu47Lys) variant of OCRL (Q01968)
E47K (p.Glu47Lys) 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.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- gnomAD X-129544977-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.17
- MetaLR 0.63
- MetaSVM -0.39
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available