L102I (p.Leu102Ile) variant of MYH6 (Myosin-6)
L102I (p.Leu102Ile) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 14; Cardiovascular phenotype. 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.
L102I (p.Leu102Ile) variant details
- p.Leu102Ile
- rs762688602
- ClinGen CA7116211
- ClinVar RCV002444085
- ClinVar RCV003629235
- Uncertain significance
- Hypertrophic cardiomyopathy 14; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.66
- CADD 23.30
- PolyPhen-2 0.21
- SIFT 0.03
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 14; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00036)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)