A423T (p.Ala423Thr) variant of MYH7 (Myosin-7)
A423T (p.Ala423Thr) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
A423T (p.Ala423Thr) variant details
- p.Ala423Thr
- rs606231321
- ClinGen CA010450
- ClinVar RCV000148977
- Ensembl rs606231321
- Likely pathogenic
- Familial cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- AlphaMissense 0.19
- MetaLR 0.71
- MetaSVM 0.38
- PolyPhen-2 0.11
- SIFT 0.03
- EVE 0.40
- ClinVar: Likely pathogenic (Familial cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available