D31E (p.Asp31Glu) variant of SHANK1 (Q9Y566)
D31E (p.Asp31Glu) in SHANK1 (Q9Y566) 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 0.23 / 1. The record also includes population frequency data and structural context.
D31E (p.Asp31Glu) variant details
- p.Asp31Glu
- NCI-TCGA Cosmic COSV9952
- cosmic curated COSV99520
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.03
- MetaLR 0.03
- MetaSVM -1.02
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.61
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available