D67H (p.Asp67His) variant of SHANK1 (Q9Y566)
D67H (p.Asp67His) 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 0.42 / 1. The record also includes population frequency data and structural context.
D67H (p.Asp67His) variant details
- p.Asp67His
- NCI-TCGA Cosmic COSV1043
- NCI-TCGA Cosmic COSV9952
- cosmic curated COSV99522
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.20
- MetaLR 0.25
- MetaSVM -0.63
- CADD 25.90
- PolyPhen-2 0.95
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available