R30W (p.Arg30Trp) variant of SPTBN4 (Q9H254)
R30W (p.Arg30Trp) in SPTBN4 (Q9H254) 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 0.37 / 1. The record also includes population frequency data and structural context.
R30W (p.Arg30Trp) variant details
- p.Arg30Trp
- rs770792509
- NCI-TCGA Cosmic COSV5895
- cosmic curated COSV58953
- ExAC rs770792509
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0004)
- Structural context available