K5R (p.Lys5Arg) variant of MYL2 (P10916)
K5R (p.Lys5Arg) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
K5R (p.Lys5Arg) variant details
- p.Lys5Arg
- rs730880941
- ClinGen CA009892
- ClinVar RCV000158909
- ClinVar RCV000816711
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.36
- CADD 24.10
- PolyPhen-2 0.90
- SIFT 0.46
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy 10; Hypertrophic cardi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)