A69P (p.Ala69Pro) variant of GJA5 (Gap junction alpha-5 protein)
A69P (p.Ala69Pro) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data.
A69P (p.Ala69Pro) variant details
- p.Ala69Pro
- ExAC rs782187661
- gnomAD rs782187661
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- MetaLR 0.98
- MetaSVM 1.07
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)