S17T (p.Ser17Thr) variant of SLC26A4 (Pendrin)
S17T (p.Ser17Thr) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S17T (p.Ser17Thr) variant details
- p.Ser17Thr
- gnomAD 7-107661691-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.46
- MetaSVM -0.55
- CADD 15.20
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Literature evidence available