R144H (p.Arg144His) variant of SPTB (Spectrin beta chain, erythrocytic)
R144H (p.Arg144His) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
R144H (p.Arg144His) variant details
- p.Arg144His
- rs1245522195
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10107
- TOPMed rs1245522195
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- MetaLR 0.30
- MetaSVM -0.46
- CADD 27.80
- PolyPhen-2 0.95
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available