S532I (p.Ser532Ile) variant of SLC26A4 (Pendrin)
S532I (p.Ser532Ile) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S532I (p.Ser532Ile) variant details
- p.Ser532Ile
- rs1057516243
- ClinGen CA16041114
- ClinVar RCV000410361
- ClinVar RCV001386694
- Pathogenic/Likely pathogenic
- not provided; Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.33
- CADD 24.00
- PolyPhen-2 0.19
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pendred syndrome; Autosomal recessive nonsyndromic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)