T36I (p.Thr36Ile) variant of CLCN5 (P51795)
T36I (p.Thr36Ile) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
T36I (p.Thr36Ile) variant details
- p.Thr36Ile
- gnomAD X-50042406-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.23
- MetaLR 0.55
- MetaSVM -0.15
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available