L236V (p.Leu236Val) variant of SLC26A4 (Pendrin)
L236V (p.Leu236Val) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L236V (p.Leu236Val) variant details
- p.Leu236Val
- rs111033242
- ClinGen CA132738
- ClinVar RCV000036504
- ClinVar RCV000411990
- Pathogenic
- Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 23.20
- PolyPhen-2 0.17
- SIFT 0.08
- ClinVar: Pathogenic (Pendred syndrome)
- EBI: Pathogenic (in PDS and DFNB4)
- UniProt: Pathogenic (in PDS and DFNB4)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)