A78T (p.Ala78Thr) variant of SHANK2 (Q9UPX8)
A78T (p.Ala78Thr) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
A78T (p.Ala78Thr) variant details
- p.Ala78Thr
- Ensembl rs1952033977
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)