V24L (p.Val24Leu) variant of GJA1 (Gap junction alpha-1 protein)
V24L (p.Val24Leu) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
V24L (p.Val24Leu) variant details
- p.Val24Leu
- TOPMed rs1773898427
- gnomAD rs1773898427
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.68
- MetaLR 0.94
- MetaSVM 1.09
- CADD 24.30
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available