D167G (p.Asp167Gly) variant of SHANK1 (Q9Y566)
D167G (p.Asp167Gly) 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.
D167G (p.Asp167Gly) variant details
- p.Asp167Gly
- ExAC rs749616695
- gnomAD rs749616695
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.23
- MetaLR 0.05
- MetaSVM -1.05
- CADD 26.70
- PolyPhen-2 0.31
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available