Y79D (p.Tyr79Asp) variant of SPTB (Spectrin beta chain, erythrocytic)
Y79D (p.Tyr79Asp) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
Y79D (p.Tyr79Asp) variant details
- p.Tyr79Asp
- cosmic curated COSV67633
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- MetaLR 0.38
- MetaSVM -0.19
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available