T6A (p.Thr6Ala) variant of SHANK2 (Q9UPX8)
T6A (p.Thr6Ala) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
T6A (p.Thr6Ala) variant details
- p.Thr6Ala
- gnomAD rs1555106924
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 19.20
- PolyPhen-2 0.99
- SIFT 0.58
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)