M8T (p.Met8Thr) variant of CLCN5 (P51795)
M8T (p.Met8Thr) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
M8T (p.Met8Thr) variant details
- p.Met8Thr
- gnomAD X-50042322-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.52
- MetaLR 0.77
- MetaSVM 0.61
- CADD 24.30
- PolyPhen-2 0.77
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available