E15E (p.Glu15Glu) variant of SLC26A4 (Pendrin)
E15E (p.Glu15Glu) in SLC26A4 (Pendrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E15E (p.Glu15Glu) variant details
- p.Glu15Glu
- rs748026717
- gnomAD 7-107661686-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 18.00
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Literature evidence available