W78R (p.Trp78Arg) variant of GJA5 (Gap junction alpha-5 protein)
W78R (p.Trp78Arg) in GJA5 (Gap junction alpha-5 protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
W78R (p.Trp78Arg) variant details
- p.Trp78Arg
- TOPMed rs1157264363
- gnomAD rs1157264363
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- MetaLR 0.99
- MetaSVM 0.95
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)