E9K (p.Glu9Lys) variant of SLC26A4 (Pendrin)
E9K (p.Glu9Lys) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- rs758648839
- ClinGen CA4432350
- ClinVar RCV003323238
- ExAC rs758648839
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.51
- MetaSVM -0.43
- CADD 24.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available