I119V (p.Ile119Val) variant of ABCC9 (O60706)
I119V (p.Ile119Val) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
I119V (p.Ile119Val) variant details
- p.Ile119Val
- rs745873108
- ClinGen CA6481895
- ClinVar RCV001223572
- ClinVar RCV004032482
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.27
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.29)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)