N20D (p.Asn20Asp) variant of SPTB (Spectrin beta chain, erythrocytic)
N20D (p.Asn20Asp) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
N20D (p.Asn20Asp) variant details
- p.Asn20Asp
- Ensembl rs2139701546
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- MetaLR 0.48
- MetaSVM 0.01
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available