G5G (p.Gly5Gly) variant of SLC26A4 (Pendrin)
G5G (p.Gly5Gly) in SLC26A4 (Pendrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G5G (p.Gly5Gly) variant details
- p.Gly5Gly
- rs7811324
- gnomAD 7-107661656-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 15.80
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)