R109L (p.Arg109Leu) variant of SPTB (Spectrin beta chain, erythrocytic)
R109L (p.Arg109Leu) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
R109L (p.Arg109Leu) variant details
- p.Arg109Leu
- ExAC rs772172809
- TOPMed rs772172809
- gnomAD rs772172809
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- AlphaMissense 0.97
- MetaLR 0.53
- MetaSVM 0.18
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available