A15V (p.Ala15Val) variant of WDR19 (WD repeat-containing protein 19)
A15V (p.Ala15Val) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- ExAC rs747580252
- gnomAD rs747580252
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.10
- MetaSVM -0.92
- CADD 13.80
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available