R111C (p.Arg111Cys) variant of SHANK2 (Q9UPX8)
R111C (p.Arg111Cys) 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 0.74 / 1. The record also includes population frequency data.
R111C (p.Arg111Cys) variant details
- p.Arg111Cys
- rs1484212852
- NCI-TCGA Cosmic COSV5835
- cosmic curated COSV58354
- TOPMed rs1484212852
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3.2e-05)