C60F (p.Cys60Phe) variant of GJB6 (Gap junction beta-6 protein)
C60F (p.Cys60Phe) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Autosomal recessive nonsyndromic hearing loss 1A; Autosomal domina. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
C60F (p.Cys60Phe) variant details
- p.Cys60Phe
- rs750540794
- ClinGen CA6904496
- ClinVar RCV000489805
- ClinVar RCV000765116
- Uncertain significance
- not provided; Autosomal recessive nonsyndromic hearing loss 1A; Autosomal domina
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Autosomal recessive nonsyndromic hearing loss 1A;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)