R60C (p.Arg60Cys) variant of SHANK2 (Q9UPX8)
R60C (p.Arg60Cys) 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.
R60C (p.Arg60Cys) variant details
- p.Arg60Cys
- cosmic curated COSV58347
- ExAC rs782623478
- TOPMed rs782623478
- gnomAD rs782623478
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 26.30
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00017)