F13L (p.Phe13Leu) variant of CLCN5 (P51795)
F13L (p.Phe13Leu) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
F13L (p.Phe13Leu) variant details
- p.Phe13Leu
- gnomAD X-50042336-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.33
- MetaLR 0.51
- MetaSVM -0.28
- CADD 22.60
- PolyPhen-2 0.08
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available