V85F (p.Val85Phe) variant of GJA5 (Gap junction alpha-5 protein)
V85F (p.Val85Phe) in GJA5 (Gap junction alpha-5 protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ATFB11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data.
V85F (p.Val85Phe) variant details
- p.Val85Phe
- ExAC rs387906613
- gnomAD rs387906613
- Pathogenic
- in ATFB11
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- MetaLR 0.99
- MetaSVM 1.01
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in ATFB11)
- UniProt: Pathogenic (in ATFB11)
- Most common in the South Asian population (allele frequency 3.5e-05)