V22A (p.Val22Ala) variant of SLC26A4 (Pendrin)
V22A (p.Val22Ala) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
V22A (p.Val22Ala) variant details
- p.Val22Ala
- rs1790557992
- ClinGen CA368844929
- ClinVar RCV001766990
- TOPMed rs1790557992
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.66
- ESM-1b 0.26
- AlphaMissense 0.54
- MetaLR 0.80
- MetaSVM 0.61
- CADD 25.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available