G26A (p.Gly26Ala) variant of WDR19 (WD repeat-containing protein 19)
G26A (p.Gly26Ala) 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 0.49 / 1. The record also includes structural context.
G26A (p.Gly26Ala) variant details
- p.Gly26Ala
- rs2109740825
- ClinGen CA356630489
- ClinVar RCV001998451
- Ensembl rs2109740825
- Uncertain significance
- Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- ESM-1b 1.00
- AlphaMissense 0.23
- MetaLR 0.07
- MetaSVM -1.07
- PolyPhen-2 0.57
- SIFT 0.13
- ClinVar: Uncertain significance (Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available