A78S (p.Ala78Ser) variant of GJB2 (Gap junction beta-2 protein)
A78S (p.Ala78Ser) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Autosomal recessive nonsyndromic hearing loss 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A78S (p.Ala78Ser) variant details
- p.Ala78Ser
- rs1959060696
- ClinGen CA387461572
- ClinVar RCV001251626
- ClinVar RCV001879829
- Conflicting interpretations
- not provided; Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.85
- AlphaMissense 0.17
- MetaLR 0.94
- MetaSVM 1.00
- CADD 24.50
- PolyPhen-2 0.24
- ClinVar: Conflicting classifications of pathogenicity (not provided; Nonsyndromic genetic hearing loss)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available