I75V (p.Ile75Val) variant of GJA5 (Gap junction alpha-5 protein)
I75V (p.Ile75Val) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and published literature.
I75V (p.Ile75Val) variant details
- p.Ile75Val
- gnomAD 1-147759016-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- MetaLR 0.84
- MetaSVM 0.67
- CADD 22.30
- PolyPhen-2 0.26
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available