W4S (p.Trp4Ser) variant of CLCN5 (P51795)
W4S (p.Trp4Ser) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
W4S (p.Trp4Ser) variant details
- p.Trp4Ser
- ExAC rs782798617
- TOPMed rs782798617
- gnomAD rs782798617
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.44
- MetaLR 0.67
- MetaSVM 0.40
- CADD 25.90
- PolyPhen-2 0.61
- SIFT 0.26
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available