I35V (p.Ile35Val) variant of MYL2 (P10916)
I35V (p.Ile35Val) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
I35V (p.Ile35Val) variant details
- p.Ile35Val
- rs730880946
- ClinGen CA009829
- ClinVar RCV001219554
- ClinVar RCV002390384
- Conflicting interpretations
- Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.68
- CADD 23.40
- PolyPhen-2 0.55
- SIFT 0.23
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyo)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)