G16W (p.Gly16Trp) variant of CLCN5 (P51795)
G16W (p.Gly16Trp) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G16W (p.Gly16Trp) variant details
- p.Gly16Trp
- gnomAD X-50042345-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.60
- MetaLR 0.76
- MetaSVM 0.61
- CADD 26.10
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available