R109P (p.Arg109Pro) variant of SPTB (Spectrin beta chain, erythrocytic)
R109P (p.Arg109Pro) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1.
R109P (p.Arg109Pro) variant details
- p.Arg109Pro
- rs772172809
- ClinGen CA390035210
- ClinVar RCV003696978
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- AlphaMissense 0.97
- MetaLR 0.53
- MetaSVM 0.18
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance