A78V (p.Ala78Val) variant of ABCC9 (O60706)
A78V (p.Ala78Val) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1O; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A78V (p.Ala78Val) variant details
- p.Ala78Val
- rs1253372454
- ClinGen CA384131493
- ClinVar RCV001553604
- ClinVar RCV002570700
- Uncertain significance
- Dilated cardiomyopathy 1O; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.34
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O; not specified)
- 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)