R3L (p.Arg3Leu) variant of SHANK2 (Q9UPX8)
R3L (p.Arg3Leu) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- rs369450251
- ClinGen CA381961542
- cosmic curated COSV99064
- ClinVar RCV003441488
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 20.60
- PolyPhen-2 0.37
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 7.2e-05)