G116V (p.Gly116Val) variant of SLC26A4 (Pendrin)
G116V (p.Gly116Val) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; RASopathy; Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G116V (p.Gly116Val) variant details
- p.Gly116Val
- rs2129311246
- ClinGen CA368847042
- ClinVar RCV002030086
- ClinVar RCV004526869
- Likely pathogenic
- not provided; RASopathy; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.08
- CADD 27.70
- ClinVar: Likely pathogenic (not provided; RASopathy; Autosomal recessive nonsyndromic hearin)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)