R109H (p.Arg109His) variant of SPTB (Spectrin beta chain, erythrocytic)
R109H (p.Arg109His) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spherocytosis type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
R109H (p.Arg109His) variant details
- p.Arg109His
- rs772172809
- ClinGen CA7231469
- cosmic curated COSV67629
- ClinVar RCV003991918
- Uncertain significance
- Hereditary spherocytosis type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- AlphaMissense 0.97
- MetaLR 0.53
- MetaSVM 0.18
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spherocytosis type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available