P2T (p.Pro2Thr) variant of SHANK2 (Q9UPX8)
P2T (p.Pro2Thr) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
P2T (p.Pro2Thr) variant details
- p.Pro2Thr
- TOPMed rs1190471594
- gnomAD rs1190471594
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 20.30
- PolyPhen-2 0.91
- SIFT 0.40
- Most common in the REMAINING population (allele frequency 1.7e-05)