R4Q (p.Arg4Gln) variant of CALCB (P10092)
R4Q (p.Arg4Gln) in CALCB (P10092) 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 0.36 / 1. The record also includes population frequency data and structural context.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- rs770182897
- NCI-TCGA Cosmic COSV6083
- cosmic curated COSV60834
- ExAC rs770182897
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.07
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.28
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available