S17G (p.Ser17Gly) variant of SLC26A4 (Pendrin)
S17G (p.Ser17Gly) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S17G (p.Ser17Gly) variant details
- p.Ser17Gly
- gnomAD rs1389255221
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.28
- MetaSVM -0.57
- CADD 14.20
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available