G34D (p.Gly34Asp) variant of SHANK1 (Q9Y566)
G34D (p.Gly34Asp) in SHANK1 (Q9Y566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G34D (p.Gly34Asp) variant details
- p.Gly34Asp
- rs768176382
- ClinGen CA9602246
- cosmic curated COSV99035
- ClinVar RCV003491474
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.07
- CADD 17.10
- PolyPhen-2 0.21
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available