P15R (p.Pro15Arg) variant of SPTB (Spectrin beta chain, erythrocytic)
P15R (p.Pro15Arg) 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 0.53 / 1. The record also includes population frequency data.
P15R (p.Pro15Arg) variant details
- p.Pro15Arg
- rs1489551959
- ClinGen CA390038394
- ClinVar RCV003491583
- gnomAD rs1489551959
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- MetaLR 0.21
- MetaSVM -0.71
- CADD 23.90
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available