Q12H (p.Gln12His) variant of SLC26A4 (Pendrin)
Q12H (p.Gln12His) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q12H (p.Gln12His) variant details
- p.Gln12His
- gnomAD rs1248775865
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.54
- MetaSVM -0.33
- CADD 20.20
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available