R156H (p.Arg156His) variant of SPTB (Spectrin beta chain, erythrocytic)
R156H (p.Arg156His) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
R156H (p.Arg156His) variant details
- p.Arg156His
- rs767566180
- NCI-TCGA Cosmic COSV1010
- NCI-TCGA Cosmic COSV6763
- cosmic curated COSV67630
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.81
- MetaLR 0.34
- MetaSVM -0.39
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available