I33T (p.Ile33Thr) variant of CLCN5 (P51795)
I33T (p.Ile33Thr) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
I33T (p.Ile33Thr) variant details
- p.Ile33Thr
- gnomAD X-50042397-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.38
- MetaLR 0.44
- MetaSVM -0.30
- CADD 22.50
- PolyPhen-2 0.14
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available