R86H (p.Arg86His) variant of SPTB (Spectrin beta chain, erythrocytic)
R86H (p.Arg86His) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Elliptocytosis 3; Hereditary spherocytosis type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R86H (p.Arg86His) variant details
- p.Arg86His
- rs200814297
- NCI-TCGA Cosmic COSV6763
- cosmic curated COSV67635
- 1000Genomes rs200814297
- Uncertain significance
- Elliptocytosis 3; Hereditary spherocytosis type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- MetaLR 0.19
- MetaSVM -0.64
- CADD 25.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Elliptocytosis 3; Hereditary spherocytosis type 2; not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available