P27A (p.Pro27Ala) variant of MYL3 (Myosin light chain 3)
P27A (p.Pro27Ala) in MYL3 (Myosin light chain 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 8; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
P27A (p.Pro27Ala) variant details
- p.Pro27Ala
- rs1248338056
- ClinGen CA352499655
- ClinVar RCV001177541
- ClinVar RCV002480596
- Uncertain significance
- Hypertrophic cardiomyopathy 8; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- AlphaMissense 0.05
- MetaLR 0.40
- MetaSVM -0.68
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.20
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 8; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)