Y34C (p.Tyr34Cys) variant of SHANK2 (Q9UPX8)
Y34C (p.Tyr34Cys) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
Y34C (p.Tyr34Cys) variant details
- p.Tyr34Cys
- cosmic curated COSV58349
- Ensembl rs1952671166
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.16
- Most common in the Middle Eastern population (allele frequency 0.00018)