A97V (p.Ala97Val) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A97V (p.Ala97Val) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A97V (p.Ala97Val) variant details
- p.Ala97Val
- rs397515993
- ClinGen CA013180
- ClinVar RCV000035541
- ClinVar RCV000705202
- Conflicting interpretations
- not specified; not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 32.00
- PolyPhen-2 0.10
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Hypertrophic cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available