R120W (p.Arg120Trp) variant of SHANK2 (Q9UPX8)
R120W (p.Arg120Trp) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
R120W (p.Arg120Trp) variant details
- p.Arg120Trp
- TOPMed rs372935127
- gnomAD rs372935127
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 5.2e-05)