G39E (p.Gly39Glu) variant of SHANK1 (Q9Y566)
G39E (p.Gly39Glu) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G39E (p.Gly39Glu) variant details
- p.Gly39Glu
- ExAC rs761557772
- gnomAD rs761557772
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.26
- MetaLR 0.04
- MetaSVM -1.05
- CADD 22.60
- PolyPhen-2 0.08
- SIFT 0.00
- Most common in the South Asian population (allele frequency 4.8e-05)
- Structural context available