V21A (p.Val21Ala) variant of GJA5 (Gap junction alpha-5 protein)
V21A (p.Val21Ala) 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 Atrial standstill 1; Atrial fibrillation, familial, 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
V21A (p.Val21Ala) variant details
- p.Val21Ala
- TOPMed rs1400650795
- gnomAD rs1400650795
- Uncertain significance
- Atrial standstill 1; Atrial fibrillation, familial, 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- MetaLR 0.97
- MetaSVM 1.10
- CADD 24.60
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (Atrial standstill 1; Atrial fibrillation, familial, 11)
- UniProt: Uncertain significance
- Most common in the HGDP:HEZHEN population (allele frequency 0.062)