K107N (p.Lys107Asn) variant of SPTB (Spectrin beta chain, erythrocytic)
K107N (p.Lys107Asn) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar 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 0.54 / 1. The record also includes population frequency data and structural context.
K107N (p.Lys107Asn) variant details
- p.Lys107Asn
- ExAC rs768703842
- TOPMed rs768703842
- gnomAD rs768703842
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- MetaLR 0.26
- MetaSVM -0.55
- CADD 23.20
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available