V19I (p.Val19Ile) variant of ABCC9 (O60706)
V19I (p.Val19Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V19I (p.Val19Ile) variant details
- p.Val19Ile
- rs2138078291
- ClinGen CA384133850
- ClinVar RCV001960249
- Ensembl rs2138078291
- Uncertain significance
- Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.47
- CADD 16.40
- PolyPhen-2 0.17
- SIFT 0.11
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)