F10V (p.Phe10Val) variant of GJA5 (Gap junction alpha-5 protein)
F10V (p.Phe10Val) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and published literature.
F10V (p.Phe10Val) variant details
- p.Phe10Val
- gnomAD 1-147759211-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- MetaLR 0.84
- MetaSVM 0.77
- CADD 20.70
- PolyPhen-2 0.24
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available