G6S (p.Gly6Ser) variant of SLC26A4 (Pendrin)
G6S (p.Gly6Ser) in SLC26A4 (Pendrin) is a missense change. 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.
G6S (p.Gly6Ser) variant details
- p.Gly6Ser
- ExAC rs762069010
- gnomAD rs762069010
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.45
- MetaSVM -0.46
- CADD 7.14
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available