R44W (p.Arg44Trp) variant of SPTB (Spectrin beta chain, erythrocytic)
R44W (p.Arg44Trp) 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 0.66 / 1. The record also includes population frequency data.
R44W (p.Arg44Trp) variant details
- p.Arg44Trp
- rs1228690182
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10107
- gnomAD rs1228690182
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- MetaLR 0.49
- MetaSVM 0.17
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available