F32L (p.Phe32Leu) variant of SLC26A4 (Pendrin)
F32L (p.Phe32Leu) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
F32L (p.Phe32Leu) variant details
- p.Phe32Leu
- gnomAD 7-107661735-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.93
- MetaLR 0.35
- MetaSVM -0.56
- CADD 23.60
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available