A7T (p.Ala7Thr) variant of CLCN5 (P51795)
A7T (p.Ala7Thr) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- gnomAD X-50042318-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.21
- MetaLR 0.52
- MetaSVM -0.22
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available