P8T (p.Pro8Thr) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
P8T (p.Pro8Thr) 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 Cardiomyopathy; 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.
P8T (p.Pro8Thr) variant details
- p.Pro8Thr
- rs2095901975
- ClinGen CA380342736
- ClinVar RCV001219051
- Ensembl rs2095901975
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 9.12
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available