S8G (p.Ser8Gly) variant of SHANK2 (Q9UPX8)
S8G (p.Ser8Gly) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
S8G (p.Ser8Gly) variant details
- p.Ser8Gly
- Ensembl rs2135405015
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)