L7R (p.Leu7Arg) variant of WDR19 (WD repeat-containing protein 19)
L7R (p.Leu7Arg) in WDR19 (WD repeat-containing protein 19) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L7R (p.Leu7Arg) variant details
- p.Leu7Arg
- rs1353554868
- gnomAD 4-39185738-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 27.10
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available
- Literature evidence available