P82L (p.Pro82Leu) variant of MYH6 (Myosin-6)
P82L (p.Pro82Leu) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; Hypertrophic cardiomyopathy 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
P82L (p.Pro82Leu) variant details
- p.Pro82Leu
- rs529427223
- ClinGen CA176969
- cosmic curated COSV62448
- ClinVar RCV000151225
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.72
- CADD 28.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Hypertrophic cardiomyop)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)