N63N (p.Asn63Asn) variant of GJA1 (Gap junction alpha-1 protein)
N63N (p.Asn63Asn) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
N63N (p.Asn63Asn) variant details
- p.Asn63Asn
- rs139688042
- gnomAD 6-121447036-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.11
- CADD 1.61
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available
- Literature evidence available