Q28H (p.Gln28His) variant of CTNNB1 (Catenin beta-1)
Q28H (p.Gln28His) in CTNNB1 (Catenin beta-1) 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 0.21 / 1. The record also includes population frequency data and structural context.
Q28H (p.Gln28His) variant details
- p.Gln28His
- rs1258632801
- gnomAD rs1258632801
- ClinGen CA352228484
- ClinVar RCV002299570
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.18
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available