A2S (p.Ala2Ser) variant of MYL2 (P10916)
A2S (p.Ala2Ser) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypertrophic cardiomyopathy 10; Cardiomyopathy. 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.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- rs1060499882
- ClinGen CA386700375
- ClinVar RCV001191495
- ClinVar RCV001363795
- Conflicting interpretations
- Hypertrophic cardiomyopathy 10; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.23
- AlphaMissense 0.08
- MetaLR 0.26
- MetaSVM -0.93
- CADD 13.70
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hypertrophic cardiomyopathy 10; Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-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)