I43T (p.Ile43Thr) variant of OCRL (Q01968)
I43T (p.Ile43Thr) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
I43T (p.Ile43Thr) variant details
- p.Ile43Thr
- gnomAD X-129544966-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.66
- MetaLR 0.78
- MetaSVM 0.65
- CADD 23.50
- PolyPhen-2 0.36
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available