M99K (p.Met99Lys) variant of SPTB (Spectrin beta chain, erythrocytic)
M99K (p.Met99Lys) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
M99K (p.Met99Lys) variant details
- p.Met99Lys
- Ensembl rs2082954431
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- MetaLR 0.02
- MetaSVM -0.94
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.28
- Population evidence available