M20K (p.Met20Lys) variant of MYL2 (P10916)
M20K (p.Met20Lys) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
M20K (p.Met20Lys) variant details
- p.Met20Lys
- rs113167834
- ClinGen CA043481
- ClinVar RCV000508032
- ClinVar RCV001321322
- Uncertain significance
- not specified; Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 0.75
- MetaLR 0.48
- MetaSVM -0.08
- PolyPhen-2 0.24
- SIFT 0.02
- MutPred 0.47
- ClinVar: Uncertain significance (not specified; Hypertrophic cardiomyopathy 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)