G132V (p.Gly132Val) variant of SHANK2 (Q9UPX8)
G132V (p.Gly132Val) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
G132V (p.Gly132Val) variant details
- p.Gly132Val
- gnomAD rs1555100880
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)