G12S (p.Gly12Ser) variant of CLCN5 (P51795)
G12S (p.Gly12Ser) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- gnomAD X-50042333-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.56
- MetaLR 0.80
- MetaSVM 0.65
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available