D77N (p.Asp77Asn) variant of SPTB (Spectrin beta chain, erythrocytic)
D77N (p.Asp77Asn) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
D77N (p.Asp77Asn) variant details
- p.Asp77Asn
- rs781066541
- NCI-TCGA Cosmic COSV6763
- cosmic curated COSV67630
- ExAC rs781066541
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- MetaLR 0.32
- MetaSVM -0.38
- CADD 25.90
- PolyPhen-2 0.80
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available