A78T (p.Ala78Thr) variant of ABCC9 (O60706)
A78T (p.Ala78Thr) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A78T (p.Ala78Thr) variant details
- p.Ala78Thr
- rs1483062806
- ClinGen CA384131499
- NCI-TCGA Cosmic COSV5397
- cosmic curated COSV53971
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.30
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.015)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)