D18N (p.Asp18Asn) variant of SHANK2 (Q9UPX8)
D18N (p.Asp18Asn) in SHANK2 (Q9UPX8) 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 0.55 / 1. The record also includes population frequency data.
D18N (p.Asp18Asn) variant details
- p.Asp18Asn
- rs1308508787
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10063
- NCI-TCGA Cosmic COSV5832
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 22.60
- PolyPhen-2 0.42
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)