L24I (p.Leu24Ile) variant of MYH6 (Myosin-6)
L24I (p.Leu24Ile) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; not specified; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L24I (p.Leu24Ile) variant details
- p.Leu24Ile
- rs573489857
- ClinGen CA176981
- ClinVar RCV000151229
- ClinVar RCV000620325
- Benign/Likely benign
- Cardiovascular phenotype; not specified; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.17
- CADD 16.00
- PolyPhen-2 0.02
- SIFT 0.93
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; not specified; Cardiomyopathy)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)