F30L (p.Phe30Leu) variant of GJA1 (Gap junction alpha-1 protein)
F30L (p.Phe30Leu) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
F30L (p.Phe30Leu) variant details
- p.Phe30Leu
- gnomAD 6-121446935-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.86
- MetaLR 0.96
- MetaSVM 1.11
- CADD 28.80
- PolyPhen-2 0.89
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available