P14H (p.Pro14His) variant of SLC26A4 (Pendrin)
P14H (p.Pro14His) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P14H (p.Pro14His) variant details
- p.Pro14His
- gnomAD 7-107661682-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.60
- MetaSVM 0.17
- CADD 23.60
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Literature evidence available