G113D (p.Gly113Asp) variant of SHANK2 (Q9UPX8)
G113D (p.Gly113Asp) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
G113D (p.Gly113Asp) variant details
- p.Gly113Asp
- cosmic curated COSV58345
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 28.40
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)