R73W (p.Arg73Trp) variant of SPTBN2 (O15020)
R73W (p.Arg73Trp) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
R73W (p.Arg73Trp) variant details
- p.Arg73Trp
- rs536375005
- NCI-TCGA Cosmic COSV5945
- cosmic curated COSV59459
- ExAC rs536375005
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.59
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.042)