S20G (p.Ser20Gly) variant of CLCN5 (P51795)
S20G (p.Ser20Gly) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S20G (p.Ser20Gly) variant details
- p.Ser20Gly
- gnomAD X-50042357-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.42
- MetaLR 0.78
- MetaSVM 0.60
- CADD 23.40
- PolyPhen-2 0.92
- SIFT 0.15
- Most common in the Middle Eastern population (allele frequency 0.00025)
- Structural context available
- Literature evidence available