A97S (p.Ala97Ser) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A97S (p.Ala97Ser) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A97S (p.Ala97Ser) variant details
- p.Ala97Ser
- rs2095900531
- ClinGen CA380341399
- ClinVar RCV001200342
- ClinVar RCV003486964
- Uncertain significance
- not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 16.50
- PolyPhen-2 0.04
- SIFT 0.34
- ClinVar: Uncertain significance (not provided; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)