K48E (p.Lys48Glu) variant of OCRL (Q01968)
K48E (p.Lys48Glu) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K48E (p.Lys48Glu) variant details
- p.Lys48Glu
- gnomAD X-129544980-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.48
- MetaLR 0.62
- MetaSVM -0.10
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available