V61L (p.Val61Leu) variant of MYL2 (P10916)
V61L (p.Val61Leu) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 10; Cardiovascular phenotype; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V61L (p.Val61Leu) variant details
- p.Val61Leu
- rs730880949
- ClinGen CA386698848
- ClinVar RCV001193581
- ClinVar RCV002559224
- Uncertain significance
- Hypertrophic cardiomyopathy 10; Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.54
- CADD 23.70
- PolyPhen-2 0.96
- SIFT 0.19
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 10; Cardiovascular phenotype; not sp)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)