H17Q (p.His17Gln) variant of CRBN (Protein cereblon)
H17Q (p.His17Gln) in CRBN (Protein cereblon) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
H17Q (p.His17Gln) variant details
- p.His17Gln
- gnomAD rs1488527536
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.07
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.85
- Most common in the HGDP:YAKUT population (allele frequency 0.8)
- Structural context available