A34V (p.Ala34Val) variant of WDR19 (WD repeat-containing protein 19)
A34V (p.Ala34Val) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- gnomAD rs1725575465
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.01
- MetaSVM -0.95
- CADD 21.40
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available