A107S (p.Ala107Ser) variant of SHANK2 (Q9UPX8)
A107S (p.Ala107Ser) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
A107S (p.Ala107Ser) variant details
- p.Ala107Ser
- gnomAD rs1555100934
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- CADD 22.20
- PolyPhen-2 0.41
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0002)