H67P (p.His67Pro) variant of SPTB (Spectrin beta chain, erythrocytic)
H67P (p.His67Pro) 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 0.58 / 1. The record also includes population frequency data.
H67P (p.His67Pro) variant details
- p.His67Pro
- Ensembl rs1594796304
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- MetaLR 0.50
- MetaSVM -0.02
- CADD 26.10
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available