P74R (p.Pro74Arg) variant of MYL2 (P10916)
P74R (p.Pro74Arg) 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; Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
P74R (p.Pro74Arg) variant details
- p.Pro74Arg
- rs942467544
- ClinGen CA386698750
- ClinVar RCV002766819
- ClinVar RCV004007593
- Uncertain significance
- Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- AlphaMissense 0.63
- MetaLR 0.42
- MetaSVM -0.07
- PolyPhen-2 0.97
- SIFT 0.03
- MutPred 0.41
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; 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)