A15T (p.Ala15Thr) variant of WDR19 (WD repeat-containing protein 19)
A15T (p.Ala15Thr) 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 0.10 / 1. The record also includes population frequency data and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- rs865806299
- ClinGen CA95676053
- ClinVar RCV001911558
- TOPMed rs865806299
- Uncertain significance
- Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.0992
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.06
- MetaSVM -1.10
- CADD 0.19
- ClinVar: Uncertain significance (Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available