A91T (p.Ala91Thr) variant of MYH7 (Myosin-7)
A91T (p.Ala91Thr) in MYH7 (Myosin-7) 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 0.83 / 1. The record also includes population frequency data and structural context.
A91T (p.Ala91Thr) variant details
- p.Ala91Thr
- rs2502320174
- ClinGen CA389053277
- ClinVar RCV003587577
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.84
- MetaSVM 0.89
- CADD 26.80
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available