V570I (p.Val570Ile) variant of SLC26A4 (Pendrin)
V570I (p.Val570Ile) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
V570I (p.Val570Ile) variant details
- p.Val570Ile
- rs397516421
- ClinGen CA132675
- ClinVar RCV000036456
- ClinVar RCV000497745
- Likely pathogenic
- Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 28.60
- PolyPhen-2 0.87
- SIFT 0.05
- ClinVar: Likely pathogenic (Pendred syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)