K58R (p.Lys58Arg) variant of MYH6 (Myosin-6)
K58R (p.Lys58Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K58R (p.Lys58Arg) variant details
- p.Lys58Arg
- rs1427899950
- ClinGen CA389031911
- ClinVar RCV001987046
- gnomAD rs1427899950
- Uncertain significance
- Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.44
- CADD 21.90
- PolyPhen-2 0.27
- SIFT 0.05
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 14)
- 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: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)