R9K (p.Arg9Lys) variant of MYL2 (P10916)
R9K (p.Arg9Lys) 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 0.46 / 1. The record also includes published literature and structural context.
R9K (p.Arg9Lys) variant details
- p.Arg9Lys
- rs2071704532
- ClinGen CA386700329
- ClinVar RCV001878291
- TOPMed rs2071704532
- Uncertain significance
- Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- AlphaMissense 0.13
- MetaLR 0.42
- MetaSVM -0.27
- PolyPhen-2 0.84
- SIFT 0.29
- MutPred 0.28
- 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)