D63H (p.Asp63His) variant of CRBN (Protein cereblon)
D63H (p.Asp63His) in CRBN (Protein cereblon) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D63H (p.Asp63His) variant details
- p.Asp63His
- cosmic curated COSV51640
- gnomAD rs1284446935
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.22
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00027)
- Structural context available