A372V (p.Ala372Val) variant of SLC26A4 (Pendrin)
A372V (p.Ala372Val) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A372V (p.Ala372Val) variant details
- p.Ala372Val
- rs121908364
- ClinGen CA253306
- ClinVar RCV000005092
- ClinVar RCV005406724
- Pathogenic
- Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Pendred syndrome; Autosomal recessive nonsyndromic hearing loss)
- EBI: Pathogenic (in DFNB4)
- UniProt: Pathogenic (in DFNB4)
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. (PMID 10190331)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)