E47A (p.Glu47Ala) variant of OCRL (Q01968)
E47A (p.Glu47Ala) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E47A (p.Glu47Ala) variant details
- p.Glu47Ala
- gnomAD X-129544978-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.19
- MetaLR 0.60
- MetaSVM -0.45
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available