P74L (p.Pro74Leu) variant of MYL2 (P10916)
P74L (p.Pro74Leu) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
P74L (p.Pro74Leu) variant details
- p.Pro74Leu
- rs942467544
- ClinGen CA243562249
- NCI-TCGA Cosmic COSV5740
- cosmic curated COSV57407
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.83
- AlphaMissense 0.63
- MetaLR 0.42
- MetaSVM -0.07
- CADD 25.20
- PolyPhen-2 0.97
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)