T1599P (p.Thr1599Pro) variant of MYH7 (Myosin-7)
T1599P (p.Thr1599Pro) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of MYH7-related skeletal myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
T1599P (p.Thr1599Pro) variant details
- p.Thr1599Pro
- rs587779390
- ClinGen CA015308
- ClinVar RCV000132750
- Ensembl rs587779390
- Pathogenic
- MYH7-related skeletal myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- AlphaMissense 0.75
- MetaLR 0.47
- MetaSVM -0.09
- PolyPhen-2 0.56
- SIFT 0.00
- EVE 0.43
- ClinVar: Pathogenic (MYH7-related skeletal myopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Laing Distal Myopathy. (PMID 20301606)