Y145C (p.Tyr145Cys) variant of SHANK2 (Q9UPX8)
Y145C (p.Tyr145Cys) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
Y145C (p.Tyr145Cys) variant details
- p.Tyr145Cys
- gnomAD rs1555099774
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.2e-05)