P76T (p.Pro76Thr) variant of SHANK2 (Q9UPX8)
P76T (p.Pro76Thr) 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.
P76T (p.Pro76Thr) variant details
- p.Pro76Thr
- TOPMed rs1555100974
- gnomAD rs1555100974
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.8e-05)