A30S (p.Ala30Ser) variant of WDR19 (WD repeat-containing protein 19)
A30S (p.Ala30Ser) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- ExAC rs776967770
- gnomAD rs776967770
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.53
- ESM-1b 0.40
- AlphaMissense 0.35
- MetaLR 0.11
- MetaSVM -0.87
- CADD 25.80
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available