F32V (p.Phe32Val) variant of SLC26A4 (Pendrin)
F32V (p.Phe32Val) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes structural context.
F32V (p.Phe32Val) variant details
- p.Phe32Val
- Ensembl rs1584292891
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.66
- MetaLR 0.50
- MetaSVM 0.00
- SIFT 0.03
- Structural context available