D128N (p.Asp128Asn) variant of SHANK1 (Q9Y566)
D128N (p.Asp128Asn) 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 0.40 / 1. The record also includes population frequency data and structural context.
D128N (p.Asp128Asn) variant details
- p.Asp128Asn
- rs761652968
- NCI-TCGA Cosmic COSV9952
- cosmic curated COSV99521
- ExAC rs761652968
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.20
- MetaLR 0.09
- MetaSVM -1.06
- CADD 25.50
- PolyPhen-2 0.93
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available