R34Q (p.Arg34Gln) variant of WAS (P42768)
R34Q (p.Arg34Gln) in WAS (P42768) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- rs368523950
- NCI-TCGA Cosmic COSV6499
- ESP rs368523950
- ExAC rs368523950
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.39
- CADD 21.70
- PolyPhen-2 0.06
- SIFT 0.44
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 5.7e-05)
- Structural context available