V24L (p.Val24Leu) variant of GJA5 (Gap junction alpha-5 protein)
V24L (p.Val24Leu) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and published literature.
V24L (p.Val24Leu) variant details
- p.Val24Leu
- gnomAD 1-147759169-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- MetaLR 0.95
- MetaSVM 1.11
- CADD 24.40
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available