A36T (p.Ala36Thr) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A36T (p.Ala36Thr) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- cosmic curated COSV10584
- Ensembl rs1595850720
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 10.80
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available