M100K (p.Met100Lys) variant of GJA1 (Gap junction alpha-1 protein)
M100K (p.Met100Lys) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
M100K (p.Met100Lys) variant details
- p.Met100Lys
- gnomAD 6-121447146-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.68
- MetaLR 0.79
- MetaSVM 0.55
- CADD 23.30
- PolyPhen-2 0.12
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available