A2T (p.Ala2Thr) variant of SLC26A4 (Pendrin)
A2T (p.Ala2Thr) 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.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 7-107661645-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.53
- MetaSVM -0.28
- CADD 21.80
- Population evidence available
- Structural context available
- Literature evidence available