G6C (p.Gly6Cys) variant of SLC26A4 (Pendrin)
G6C (p.Gly6Cys) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G6C (p.Gly6Cys) variant details
- p.Gly6Cys
- ExAC rs762069010
- gnomAD rs762069010
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.33
- ESM-1b 0.52
- AlphaMissense 0.11
- MetaLR 0.53
- MetaSVM -0.30
- CADD 9.12
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available