I72N (p.Ile72Asn) variant of GJA1 (Gap junction alpha-1 protein)
I72N (p.Ile72Asn) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes variant effect predictions and structural context.
I72N (p.Ile72Asn) variant details
- p.Ile72Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- MetaLR 0.99
- MetaSVM 1.02
- SIFT 0.00
- UniProt: Variant assessed as somatic; high impact.
- Structural context available