P126S (p.Pro126Ser) variant of SHANK2 (Q9UPX8)
P126S (p.Pro126Ser) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
P126S (p.Pro126Ser) variant details
- p.Pro126Ser
- gnomAD rs1555100895
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.12
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)