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 0.81 / 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 0.815
- REVEL 0.85
- CADD 26.60
- PolyPhen-2 0.55
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available