G44D (p.Gly44Asp) variant of SHANK1 (Q9Y566)
G44D (p.Gly44Asp) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G44D (p.Gly44Asp) variant details
- p.Gly44Asp
- gnomAD rs1462720685
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.25
- MetaLR 0.04
- MetaSVM -1.05
- CADD 19.90
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available