K102M (p.Lys102Met) variant of SPTB (Spectrin beta chain, erythrocytic)
K102M (p.Lys102Met) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
K102M (p.Lys102Met) variant details
- p.Lys102Met
- gnomAD rs1468904056
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- MetaLR 0.44
- MetaSVM -0.21
- CADD 25.30
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available