R112W (p.Arg112Trp) variant of SPTBN2 (O15020)
R112W (p.Arg112Trp) 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 0.63 / 1. The record also includes population frequency data.
R112W (p.Arg112Trp) variant details
- p.Arg112Trp
- rs1309547051
- NCI-TCGA Cosmic COSV5944
- cosmic curated COSV59449
- gnomAD rs1309547051
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.72
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)