M147V (p.Met147Val) variant of SLC26A4 (Pendrin)
M147V (p.Met147Val) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
M147V (p.Met147Val) variant details
- p.Met147Val
- rs760413427
- ClinGen CA4432481
- ClinVar RCV001004625
- ClinVar RCV001389158
- Pathogenic
- Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.79
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Pendred syndrome; Autosomal recessive nonsyndromic hearing loss)
- EBI: Pathogenic (in DFNB4)
- UniProt: Pathogenic (in DFNB4)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated… (PMID 14508505)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)