H17P (p.His17Pro) variant of CRBN (Protein cereblon)
H17P (p.His17Pro) in CRBN (Protein cereblon) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
H17P (p.His17Pro) variant details
- p.His17Pro
- cosmic curated COSV51642
- ExAC rs200222965
- gnomAD rs200222965
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.14
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0028)
- Structural context available