Y101C (p.Tyr101Cys) variant of SHANK2 (Q9UPX8)
Y101C (p.Tyr101Cys) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
Y101C (p.Tyr101Cys) variant details
- p.Tyr101Cys
- gnomAD rs1555100948
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 6.5e-06)