I72M (p.Ile72Met) variant of GJA1 (Gap junction alpha-1 protein)
I72M (p.Ile72Met) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
I72M (p.Ile72Met) variant details
- p.Ile72Met
- gnomAD 6-121447063-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.85
- MetaLR 0.99
- MetaSVM 1.06
- CADD 24.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available