V109M (p.Val109Met) variant of ABCC9 (O60706)
V109M (p.Val109Met) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1O. 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.
V109M (p.Val109Met) variant details
- p.Val109Met
- rs374849789
- ClinGen CA6481901
- cosmic curated COSV99683
- ClinVar RCV001304983
- Uncertain significance
- not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.40
- CADD 18.70
- PolyPhen-2 0.04
- SIFT 0.16
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)