M87V (p.Met87Val) variant of SPTB (Spectrin beta chain, erythrocytic)
M87V (p.Met87Val) 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 0.61 / 1. The record also includes population frequency data.
M87V (p.Met87Val) variant details
- p.Met87Val
- rs757698672
- ClinGen CA7231501
- ClinVar RCV003491588
- ExAC rs757698672
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- MetaLR 0.67
- MetaSVM 0.45
- CADD 21.00
- PolyPhen-2 0.09
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available