F40L (p.Phe40Leu) variant of CLCN5 (P51795)
F40L (p.Phe40Leu) in CLCN5 (P51795) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
F40L (p.Phe40Leu) variant details
- p.Phe40Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.31
- MetaLR 0.43
- MetaSVM -0.50
- CADD 20.60
- PolyPhen-2 0.14
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available