G59D (p.Gly59Asp) variant of SHANK1 (Q9Y566)
G59D (p.Gly59Asp) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G59D (p.Gly59Asp) variant details
- p.Gly59Asp
- cosmic curated COSV10735
- ExAC rs763275118
- gnomAD rs763275118
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.12
- MetaLR 0.05
- MetaSVM -1.06
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available