K71M (p.Lys71Met) variant of MYL2 (P10916)
K71M (p.Lys71Met) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
K71M (p.Lys71Met) variant details
- p.Lys71Met
- rs2136772274
- ClinGen CA386698771
- ClinVar RCV002014353
- Ensembl rs2136772274
- Uncertain significance
- Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 0.37
- MetaLR 0.65
- MetaSVM 0.42
- PolyPhen-2 0.88
- SIFT 0.02
- MutPred 0.45
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)