A10T (p.Ala10Thr) variant of MYL2 (P10916)
A10T (p.Ala10Thr) in MYL2 (P10916) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- rs730880942
- ClinGen CA010053
- ClinVar RCV000158910
- ClinVar RCV000794360
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.19
- AlphaMissense 0.14
- MetaLR 0.32
- MetaSVM -0.79
- CADD 1.54
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)