F30C (p.Phe30Cys) variant of GJA1 (Gap junction alpha-1 protein)
F30C (p.Phe30Cys) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
F30C (p.Phe30Cys) variant details
- p.Phe30Cys
- gnomAD 6-121446936-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.96
- MetaLR 0.98
- MetaSVM 1.05
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available