R21Q (p.Arg21Gln) variant of APOH (Beta-2-glycoprotein 1)
R21Q (p.Arg21Gln) in APOH (Beta-2-glycoprotein 1) 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 0.19 / 1. The record also includes population frequency data and structural context.
R21Q (p.Arg21Gln) variant details
- p.Arg21Gln
- rs149659675
- NCI-TCGA Cosmic COSV9923
- ESP rs149659675
- ExAC rs149659675
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.10
- CADD 18.00
- PolyPhen-2 0.07
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available