R3R (p.Arg3Arg) variant of WDR19 (WD repeat-containing protein 19)
R3R (p.Arg3Arg) in WDR19 (WD repeat-containing protein 19) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R3R (p.Arg3Arg) variant details
- p.Arg3Arg
- rs1408492113
- gnomAD 4-39185728-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 15.90
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Literature evidence available