E29D (p.Glu29Asp) variant of SLC26A4 (Pendrin)
E29D (p.Glu29Asp) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E29D (p.Glu29Asp) variant details
- p.Glu29Asp
- rs1554352240
- ClinGen CA368845010
- ClinVar RCV000670732
- ClinVar RCV002462009
- Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.67
- MetaSVM -0.03
- CADD 21.60
- ClinVar: Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 4)
- EBI: Likely pathogenic (in PDS)
- UniProt: Likely pathogenic (in PDS)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)