G56D (p.Gly56Asp) variant of SHANK1 (Q9Y566)
G56D (p.Gly56Asp) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G56D (p.Gly56Asp) variant details
- p.Gly56Asp
- gnomAD rs1248881476
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.14
- MetaLR 0.06
- MetaSVM -1.00
- CADD 23.20
- PolyPhen-2 0.23
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available