F84C (p.Phe84Cys) variant of GJA1 (Gap junction alpha-1 protein)
F84C (p.Phe84Cys) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
F84C (p.Phe84Cys) variant details
- p.Phe84Cys
- rs1209697885
- NCI-TCGA Cosmic COSV9924
- gnomAD rs1209697885
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.95
- MetaLR 0.97
- MetaSVM 1.11
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available