P15S (p.Pro15Ser) variant of SPTB (Spectrin beta chain, erythrocytic)
P15S (p.Pro15Ser) 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.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- Ensembl rs2083321814
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- MetaLR 0.16
- MetaSVM -0.90
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available