S72P (p.Ser72Pro) variant of SPTB (Spectrin beta chain, erythrocytic)
S72P (p.Ser72Pro) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
S72P (p.Ser72Pro) variant details
- p.Ser72Pro
- ExAC rs774078629
- gnomAD rs774078629
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- MetaLR 0.10
- MetaSVM -1.01
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available