P140R (p.Pro140Arg) variant of SLC26A4 (Pendrin)
P140R (p.Pro140Arg) 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; Pendred syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
P140R (p.Pro140Arg) variant details
- p.Pro140Arg
- rs2535296235
- ClinGen CA368847792
- ClinVar RCV003044885
- ClinVar RCV005045176
- Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.991
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrom)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)