T19A (p.Thr19Ala) variant of GJA1 (Gap junction alpha-1 protein)
T19A (p.Thr19Ala) 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.
T19A (p.Thr19Ala) variant details
- p.Thr19Ala
- NCI-TCGA Cosmic COSV9924
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.95
- MetaLR 0.99
- MetaSVM 1.00
- CADD 26.10
- PolyPhen-2 0.97
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available