P17S (p.Pro17Ser) variant of MYL3 (Myosin light chain 3)
P17S (p.Pro17Ser) 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 Cardiovascular phenotype; Cardiomyopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- rs1702011848
- ClinGen CA352499775
- ClinVar RCV001203601
- ClinVar RCV002339510
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.24
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)