E15K (p.Glu15Lys) variant of SLC26A4 (Pendrin)
E15K (p.Glu15Lys) in SLC26A4 (Pendrin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- NCI-TCGA Cosmic COSV9970
- cosmic curated COSV99706
- ExAC rs780980532
- TOPMed rs780980532
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.47
- MetaSVM -0.29
- CADD 23.10
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available