A16G (p.Ala16Gly) variant of GJA1 (Gap junction alpha-1 protein)
A16G (p.Ala16Gly) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
A16G (p.Ala16Gly) variant details
- p.Ala16Gly
- gnomAD rs1427954225
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.67
- MetaLR 0.93
- MetaSVM 1.07
- CADD 23.60
- PolyPhen-2 0.76
- SIFT 0.29
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available