I72S (p.Ile72Ser) variant of GJA5 (Gap junction alpha-5 protein)
I72S (p.Ile72Ser) in GJA5 (Gap junction alpha-5 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
I72S (p.Ile72Ser) variant details
- p.Ile72Ser
- NCI-TCGA TCGA novel
- gnomAD rs1553227067
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- MetaLR 0.99
- MetaSVM 0.99
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)