I56T (p.Ile56Thr) variant of OCRL (Q01968)
I56T (p.Ile56Thr) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
I56T (p.Ile56Thr) variant details
- p.Ile56Thr
- gnomAD X-129545005-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.69
- MetaLR 0.86
- MetaSVM 0.87
- CADD 24.60
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available