A10G (p.Ala10Gly) variant of CRBN (Protein cereblon)
A10G (p.Ala10Gly) in CRBN (Protein cereblon) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, autosomal recessive 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A10G (p.Ala10Gly) variant details
- p.Ala10Gly
- rs137880766
- ClinGen CA2229429
- ClinVar RCV001334905
- 1000Genomes rs137880766
- Uncertain significance
- Intellectual disability, autosomal recessive 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.08
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (Intellectual disability, autosomal recessive 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.1)
- Structural context available