N34S (p.Asn34Ser) variant of SPTB (Spectrin beta chain, erythrocytic)
N34S (p.Asn34Ser) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
N34S (p.Asn34Ser) variant details
- p.Asn34Ser
- ExAC rs767892082
- gnomAD rs767892082
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- MetaLR 0.15
- MetaSVM -0.96
- CADD 21.90
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available