G32R (p.Gly32Arg) variant of SHANK1 (Q9Y566)
G32R (p.Gly32Arg) in SHANK1 (Q9Y566) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G32R (p.Gly32Arg) variant details
- p.Gly32Arg
- rs756200161
- NCI-TCGA Cosmic COSV9952
- cosmic curated COSV99522
- ExAC rs756200161
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.14
- MetaLR 0.07
- MetaSVM -1.04
- CADD 24.40
- PolyPhen-2 0.47
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available