F13S (p.Phe13Ser) variant of CLCN5 (P51795)
F13S (p.Phe13Ser) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
F13S (p.Phe13Ser) variant details
- p.Phe13Ser
- gnomAD X-50042337-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.27
- MetaLR 0.57
- MetaSVM -0.04
- CADD 23.60
- PolyPhen-2 0.27
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available