Q49H (p.Gln49His) variant of GJA1 (Gap junction alpha-1 protein)
Q49H (p.Gln49His) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
Q49H (p.Gln49His) variant details
- p.Gln49His
- 1000Genomes rs747221644
- ExAC rs747221644
- gnomAD rs747221644
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.92
- MetaLR 0.97
- MetaSVM 1.10
- CADD 24.70
- SIFT 0.00
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available