S19R (p.Ser19Arg) variant of CLCN5 (P51795)
S19R (p.Ser19Arg) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S19R (p.Ser19Arg) variant details
- p.Ser19Arg
- gnomAD X-50042356-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.14
- MetaLR 0.42
- MetaSVM -0.63
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available