R24H (p.Arg24His) variant of SPTBN4 (Q9H254)
R24H (p.Arg24His) in SPTBN4 (Q9H254) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R24H (p.Arg24His) variant details
- p.Arg24His
- rs146428235
- ClinGen CA9445237
- cosmic curated COSV58949
- ClinVar RCV003727532
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available