G16A (p.Gly16Ala) variant of CLCN5 (P51795)
G16A (p.Gly16Ala) 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.
G16A (p.Gly16Ala) variant details
- p.Gly16Ala
- gnomAD X-50042346-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.29
- MetaLR 0.44
- MetaSVM -0.42
- CADD 19.30
- PolyPhen-2 0.10
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available