D137N (p.Asp137Asn) variant of SPTB (Spectrin beta chain, erythrocytic)
D137N (p.Asp137Asn) 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 0.59 / 1.
D137N (p.Asp137Asn) variant details
- p.Asp137Asn
- rs1566774323
- Ensembl rs1566774323
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- AlphaMissense 0.93
- MetaLR 0.55
- MetaSVM 0.18
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.53
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance