M1V (p.Met1Val) variant of SPTB (Spectrin beta chain, erythrocytic)
M1V (p.Met1Val) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs121918651
- ClinGen CA210952
- ClinVar RCV000013693
- ClinVar RCV001000731
- Pathogenic/Likely pathogenic
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- MetaLR 0.24
- MetaSVM -0.53
- PolyPhen-2 0.75
- SIFT 0.01
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (not specified; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Beta-spectrin Promiss-ao: a translation initiation codon mutation of the beta-spectrin gene (ATG --> GTG) associated… (PMID 9414314)