R139Q (p.Arg139Gln) variant of SHANK2 (Q9UPX8)
R139Q (p.Arg139Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
R139Q (p.Arg139Gln) variant details
- p.Arg139Gln
- rs1951923525
- ClinGen CA381962014
- ClinVar RCV001090417
- TOPMed rs1951923525
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)