T172I (p.Thr172Ile) variant of SPTB (Spectrin beta chain, erythrocytic)
T172I (p.Thr172Ile) 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 0.63 / 1. The record also includes population frequency data.
T172I (p.Thr172Ile) variant details
- p.Thr172Ile
- rs777269456
- ClinGen CA7231421
- ClinVar RCV003138787
- ExAC rs777269456
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- MetaLR 0.30
- MetaSVM -0.37
- CADD 24.50
- PolyPhen-2 0.62
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available