R47H (p.Arg47His) variant of SPTBN2 (O15020)
R47H (p.Arg47His) 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 0.55 / 1. The record also includes population frequency data.
R47H (p.Arg47His) variant details
- p.Arg47His
- rs768391963
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10002
- ExAC rs768391963
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.37
- CADD 26.80
- PolyPhen-2 0.97
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)