A2T (p.Ala2Thr) variant of MYL2 (P10916)
A2T (p.Ala2Thr) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified; Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- rs1060499882
- ClinGen CA16609759
- ClinVar RCV000455015
- ClinVar RCV000618317
- Uncertain significance
- Cardiovascular phenotype; not specified; Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- AlphaMissense 0.08
- MetaLR 0.26
- MetaSVM -0.93
- PolyPhen-2 0.00
- SIFT 0.25
- MutPred 0.25
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Hypertrophic cardiomyop)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)