L10L (p.Leu10Leu) variant of GJA1 (Gap junction alpha-1 protein)
L10L (p.Leu10Leu) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L10L (p.Leu10Leu) variant details
- p.Leu10Leu
- gnomAD 6-121446877-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 9.49
- Population evidence available
- Structural context available
- Literature evidence available