M1T (p.Met1Thr) variant of MYH7 (Myosin-7)
M1T (p.Met1Thr) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MYH7-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2502323077
- ClinGen CA389054261
- ClinVar RCV004527968
- ClinVar RCV004780548
- Uncertain significance
- MYH7-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.80
- ESM-1b 0.75
- AlphaMissense 0.46
- MetaLR 0.74
- MetaSVM 0.62
- CADD 24.00
- ClinVar: Uncertain significance (MYH7-related disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available