A22V (p.Ala22Val) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A22V (p.Ala22Val) 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 Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- rs2495786653
- ClinGen CA380341996
- ClinVar RCV004014352
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 10.20
- PolyPhen-2 0.08
- SIFT 0.36
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available