R143Q (p.Arg143Gln) variant of SHANK2 (Q9UPX8)
R143Q (p.Arg143Gln) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
R143Q (p.Arg143Gln) variant details
- p.Arg143Gln
- cosmic curated COSV10943
- TOPMed rs1212217694
- gnomAD rs1212217694
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00018)