M1T (p.Met1Thr) variant of WDR19 (WD repeat-containing protein 19)
M1T (p.Met1Thr) in WDR19 (WD repeat-containing protein 19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1021076498
- ClinGen CA95674038
- ClinVar RCV002030665
- Uncertain significance
- Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- ESM-1b 0.00
- AlphaMissense 0.58
- MetaLR 0.28
- MetaSVM -0.46
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available