S17N (p.Ser17Asn) variant of CLCN5 (P51795)
S17N (p.Ser17Asn) 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 0.55 / 1. The record also includes population frequency data and structural context.
S17N (p.Ser17Asn) variant details
- p.Ser17Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.51
- MetaLR 0.82
- MetaSVM 0.74
- CADD 24.80
- PolyPhen-2 0.92
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available