A22T (p.Ala22Thr) variant of MYL3 (Myosin light chain 3)
A22T (p.Ala22Thr) in MYL3 (Myosin light chain 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- rs1427839320
- ClinGen CA352499716
- ClinVar RCV000786176
- gnomAD rs1427839320
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- AlphaMissense 0.12
- MetaLR 0.50
- MetaSVM -0.49
- PolyPhen-2 0.34
- SIFT 0.24
- MutPred 0.19
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available