I162V (p.Ile162Val) variant of SPTB (Spectrin beta chain, erythrocytic)
I162V (p.Ile162Val) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
I162V (p.Ile162Val) variant details
- p.Ile162Val
- TOPMed rs1301821602
- gnomAD rs1301821602
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- MetaLR 0.24
- MetaSVM -0.59
- CADD 23.10
- PolyPhen-2 0.18
- SIFT 0.02
- Population evidence available