I95V (p.Ile95Val) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
I95V (p.Ile95Val) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
I95V (p.Ile95Val) variant details
- p.Ile95Val
- 1000Genomes rs549758428
- ExAC rs549758428
- TOPMed rs549758428
- gnomAD rs549758428
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0813
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 7.02
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available