N48H (p.Asn48His) variant of CRBN (Protein cereblon)
N48H (p.Asn48His) in CRBN (Protein cereblon) is a missense change. 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.
N48H (p.Asn48His) variant details
- p.Asn48His
- gnomAD rs1382508167
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.15
- CADD 25.40
- PolyPhen-2 0.71
- SIFT 0.02
- Most common in the HGDP:PAPUANHIGHLANDS population (allele frequency 0.25)
- Structural context available