V41Q (p.Val41Gln) variant of GJA1 (Gap junction alpha-1 protein)
V41Q (p.Val41Gln) in GJA1 (Gap junction alpha-1 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V41Q (p.Val41Gln) variant details
- p.Val41Gln
- gnomAD 6-121446962-A-ACA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 28.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available