A73S (p.Ala73Ser) variant of MYL2 (P10916)
A73S (p.Ala73Ser) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
A73S (p.Ala73Ser) variant details
- p.Ala73Ser
- rs2136772254
- ClinGen CA386698758
- ClinVar RCV002049589
- Ensembl rs2136772254
- Uncertain significance
- Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- AlphaMissense 0.24
- MetaLR 0.59
- MetaSVM 0.22
- PolyPhen-2 0.99
- SIFT 0.03
- MutPred 0.48
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)