Q33R (p.Gln33Arg) variant of SLC26A4 (Pendrin)
Q33R (p.Gln33Arg) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q33R (p.Gln33Arg) variant details
- p.Gln33Arg
- gnomAD rs1392879213
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.32
- MetaSVM -0.59
- CADD 22.90
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available