Y214C (p.Tyr214Cys) variant of SLC26A4 (Pendrin)
Y214C (p.Tyr214Cys) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Monogenic hearing loss; Pendred syndrome; Autosomal recessive nonsyndromic heari. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Y214C (p.Tyr214Cys) variant details
- p.Tyr214Cys
- rs773861155
- ClinGen CA368831225
- ClinVar RCV001004628
- ClinVar RCV002538372
- Pathogenic/Likely pathogenic
- Monogenic hearing loss; Pendred syndrome; Autosomal recessive nonsyndromic heari
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.84
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Monogenic hearing loss; Pendred syndrome; Autosomal recessive no)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)