P21S (p.Pro21Ser) variant of MYL3 (Myosin light chain 3)
P21S (p.Pro21Ser) 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; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- rs779557153
- ClinGen CA045062
- ClinVar RCV001182989
- ClinVar RCV001876082
- Uncertain significance
- Hypertrophic cardiomyopathy 8; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.12
- CADD 14.90
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 8; Cardiovascular phenotype; not pro)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.4e-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)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)