S90L (p.Ser90Leu) variant of SLC26A4 (Pendrin)
S90L (p.Ser90Leu) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S90L (p.Ser90Leu) variant details
- p.Ser90Leu
- rs370588279
- ClinGen CA274028
- NCI-TCGA Cosmic COSV5591
- cosmic curated COSV55914
- Pathogenic/Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.91
- MetaSVM 1.05
- CADD 28.30
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrom)
- EBI: Pathogenic (in DFNB4)
- UniProt: Pathogenic (in DFNB4)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- 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)