A31T (p.Ala31Thr) variant of SLC26A4 (Pendrin)
A31T (p.Ala31Thr) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- cosmic curated COSV55918
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.48
- MetaSVM -0.48
- CADD 21.00
- Population evidence available
- Structural context available