R4Q (p.Arg4Gln) variant of ALDOB (Fructose-bisphosphate aldolase B)
R4Q (p.Arg4Gln) in ALDOB (Fructose-bisphosphate aldolase B) 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 0.29 / 1. The record also includes population frequency data.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- rs767812270
- NCI-TCGA Cosmic COSV6639
- cosmic curated COSV66398
- ExAC rs767812270
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 8.71
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00024)