R86C (p.Arg86Cys) variant of SPTB (Spectrin beta chain, erythrocytic)
R86C (p.Arg86Cys) in SPTB (Spectrin beta chain, erythrocytic) 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 0.38 / 1. The record also includes population frequency data and structural context.
R86C (p.Arg86Cys) variant details
- p.Arg86Cys
- rs1407023521
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10107
- gnomAD rs1407023521
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- MetaLR 0.28
- MetaSVM -0.53
- CADD 25.70
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available