R3H (p.Arg3His) variant of SHANK2 (Q9UPX8)
R3H (p.Arg3His) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
R3H (p.Arg3His) variant details
- p.Arg3His
- rs369450251
- ClinGen CA6162192
- ClinVar RCV003398104
- 1000Genomes rs369450251
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 19.30
- PolyPhen-2 0.81
- SIFT 0.51
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CDX population (allele frequency 0.011)