A47T (p.Ala47Thr) variant of SHANK2 (Q9UPX8)
A47T (p.Ala47Thr) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
A47T (p.Ala47Thr) variant details
- p.Ala47Thr
- gnomAD rs1555106876
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 18.80
- Population evidence available