M100T (p.Met100Thr) variant of GJA1 (Gap junction alpha-1 protein)
M100T (p.Met100Thr) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
M100T (p.Met100Thr) variant details
- p.Met100Thr
- gnomAD 6-121447146-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.44
- MetaLR 0.82
- MetaSVM 0.64
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available