R40K (p.Arg40Lys) variant of MYL2 (P10916)
R40K (p.Arg40Lys) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
R40K (p.Arg40Lys) variant details
- p.Arg40Lys
- rs727503299
- ClinGen CA009847
- ClinVar RCV000151367
- ClinVar RCV000464490
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- AlphaMissense 0.99
- MetaLR 0.55
- MetaSVM 0.39
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.50
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- 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)