R86W (p.Arg86Trp) variant of SPTBN2 (O15020)
R86W (p.Arg86Trp) in SPTBN2 (O15020) 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 0.72 / 1. The record also includes population frequency data.
R86W (p.Arg86Trp) variant details
- p.Arg86Trp
- rs776593274
- NCI-TCGA Cosmic COSV5945
- cosmic curated COSV59451
- ExAC rs776593274
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.73
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)