I56F (p.Ile56Phe) variant of OCRL (Q01968)
I56F (p.Ile56Phe) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
I56F (p.Ile56Phe) variant details
- p.Ile56Phe
- gnomAD X-129545004-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.51
- MetaLR 0.80
- MetaSVM 0.66
- CADD 22.80
- PolyPhen-2 0.33
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available