L445W (p.Leu445Trp) variant of SLC26A4 (Pendrin)
L445W (p.Leu445Trp) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Monogenic hearing loss; Autosomal recessive nonsyndromic hearing loss 4; Pendred. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L445W (p.Leu445Trp) variant details
- p.Leu445Trp
- rs111033307
- ClinGen CA253309
- ClinVar RCV000005100
- ClinVar RCV000036437
- Pathogenic
- Monogenic hearing loss; Autosomal recessive nonsyndromic hearing loss 4; Pendred
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Monogenic hearing loss; Autosomal recessive nonsyndromic hearing)
- EBI: Pathogenic (in PDS and DFNB4)
- UniProt: Pathogenic (in PDS and DFNB4)
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Cited in: Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. (PMID 10602116)
- Cited in: Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. (PMID 10700480)