I655V (p.Ile655Val) variant of SLC26A4 (Pendrin)
I655V (p.Ile655Val) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
I655V (p.Ile655Val) variant details
- p.Ile655Val
- rs397516424
- ClinGen CA261421
- ClinVar RCV000036463
- ClinVar RCV000675129
- Likely pathogenic
- Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.24
- ESM-1b 0.03
- AlphaMissense 0.08
- CADD 19.30
- PolyPhen-2 0.03
- SIFT 0.14
- ClinVar: Likely pathogenic (Pendred syndrome)
- EBI: Likely pathogenic
- UniProt: Likely 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)