R89C (p.Arg89Cys) variant of SHANK1 (Q9Y566)
R89C (p.Arg89Cys) 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 0.46 / 1. The record also includes population frequency data and structural context.
R89C (p.Arg89Cys) variant details
- p.Arg89Cys
- rs1183898203
- NCI-TCGA Cosmic COSV9952
- cosmic curated COSV99521
- TOPMed rs1183898203
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.28
- MetaLR 0.12
- MetaSVM -0.90
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available