L236P (p.Leu236Pro) variant of SLC26A4 (Pendrin)
L236P (p.Leu236Pro) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SLC26A4-related disorder; Inborn genetic diseases; Rare genetic deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L236P (p.Leu236Pro) variant details
- p.Leu236Pro
- rs80338848
- ClinGen CA261437
- ClinVar RCV000005086
- ClinVar RCV000036505
- Pathogenic/Likely pathogenic
- SLC26A4-related disorder; Inborn genetic diseases; Rare genetic deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 28.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (SLC26A4-related disorder; Inborn genetic diseases; Rare genetic)
- EBI: Pathogenic (in PDS and DFNB4)
- UniProt: Pathogenic (in PDS and DFNB4)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. (PMID 10700480)
- Cited in: Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype… (PMID 11317356)