R34Q (p.Arg34Gln) variant of SPTBN4 (Q9H254)
R34Q (p.Arg34Gln) in SPTBN4 (Q9H254) 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 0.77 / 1. The record also includes population frequency data.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- rs775690872
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10015
- ExAC rs775690872
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- CADD 24.70
- PolyPhen-2 0.92
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)