A10S (p.Ala10Ser) variant of CRBN (Protein cereblon)
A10S (p.Ala10Ser) in CRBN (Protein cereblon) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A10S (p.Ala10Ser) variant details
- p.Ala10Ser
- ExAC rs768452189
- TOPMed rs768452189
- gnomAD rs768452189
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.09
- CADD 18.70
- PolyPhen-2 0.05
- SIFT 0.75
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00051)
- Structural context available