I162L (p.Ile162Leu) variant of SPTB (Spectrin beta chain, erythrocytic)
I162L (p.Ile162Leu) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
I162L (p.Ile162Leu) variant details
- p.Ile162Leu
- TOPMed rs1301821602
- gnomAD rs1301821602
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- MetaLR 0.32
- MetaSVM -0.44
- CADD 25.50
- PolyPhen-2 0.74
- SIFT 0.01
- Population evidence available