S24R (p.Ser24Arg) variant of CLCN5 (P51795)
S24R (p.Ser24Arg) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S24R (p.Ser24Arg) variant details
- p.Ser24Arg
- gnomAD X-50042371-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.33
- MetaLR 0.51
- MetaSVM -0.35
- CADD 17.80
- PolyPhen-2 0.37
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available