A3T (p.Ala3Thr) variant of SLC26A4 (Pendrin)
A3T (p.Ala3Thr) 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.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- gnomAD rs1403933917
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.51
- MetaSVM -0.37
- CADD 20.60
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available