C71Y (p.Cys71Tyr) variant of SHANK2 (Q9UPX8)
C71Y (p.Cys71Tyr) 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.
C71Y (p.Cys71Tyr) variant details
- p.Cys71Tyr
- 1000Genomes rs182549877
- ExAC rs182549877
- TOPMed rs182549877
- gnomAD rs182549877
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 25.00
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the 1KG:CHB population (allele frequency 0.0049)