D93N (p.Asp93Asn) variant of SHANK1 (Q9Y566)
D93N (p.Asp93Asn) 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 0.31 / 1. The record also includes population frequency data and structural context.
D93N (p.Asp93Asn) variant details
- p.Asp93Asn
- rs768707641
- NCI-TCGA Cosmic COSV5324
- cosmic curated COSV53246
- ExAC rs768707641
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.12
- MetaLR 0.04
- MetaSVM -1.04
- CADD 23.80
- PolyPhen-2 0.27
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available