P25S (p.Pro25Ser) variant of MYL3 (Myosin light chain 3)
P25S (p.Pro25Ser) in MYL3 (Myosin light chain 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- rs369256548
- ClinGen CA014083
- ClinVar RCV000158958
- ClinVar RCV002381519
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.18
- CADD 16.60
- PolyPhen-2 0.80
- SIFT 0.48
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 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)