P101A (p.Pro101Ala) variant of SPTB (Spectrin beta chain, erythrocytic)
P101A (p.Pro101Ala) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
P101A (p.Pro101Ala) variant details
- p.Pro101Ala
- gnomAD rs1173811332
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- MetaLR 0.35
- MetaSVM -0.38
- CADD 28.60
- PolyPhen-2 0.72
- SIFT 0.00
- Population evidence available