D66G (p.Asp66Gly) variant of SHANK1 (Q9Y566)
D66G (p.Asp66Gly) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D66G (p.Asp66Gly) variant details
- p.Asp66Gly
- Ensembl rs563250952
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.16
- MetaLR 0.08
- MetaSVM -1.00
- CADD 24.10
- PolyPhen-2 0.11
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available