L3V (p.Leu3Val) variant of ABCC9 (O60706)
L3V (p.Leu3Val) 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; Intellectual disability and myopathy syndrome; Hypert. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- rs976596252
- ClinGen CA233626974
- ClinVar RCV001236102
- ClinVar RCV002480771
- Uncertain significance
- Dilated cardiomyopathy 1O; Intellectual disability and myopathy syndrome; Hypert
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.36
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O; Intellectual disability and myopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.026)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Cantú Syndrome. (PMID 25275207)