S20R (p.Ser20Arg) variant of CLCN5 (P51795)
S20R (p.Ser20Arg) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S20R (p.Ser20Arg) variant details
- p.Ser20Arg
- gnomAD X-50042359-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.47
- MetaLR 0.76
- MetaSVM 0.36
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available