R409P (p.Arg409Pro) variant of SLC26A4 (Pendrin)
R409P (p.Arg409Pro) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 4; not provided; Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R409P (p.Arg409Pro) variant details
- p.Arg409Pro
- rs111033305
- ClinGen CA261402
- ClinVar RCV000036429
- ClinVar RCV001291346
- Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 4; not provided; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 4; not provided; P)
- EBI: Pathogenic (in DFNB4)
- UniProt: Pathogenic (in DFNB4)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology… (PMID 12676893)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)