V24M (p.Val24Met) variant of GJA1 (Gap junction alpha-1 protein)
V24M (p.Val24Met) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
V24M (p.Val24Met) variant details
- p.Val24Met
- gnomAD 6-121446917-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.81
- MetaLR 0.98
- MetaSVM 1.11
- CADD 27.80
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available