P82A (p.Pro82Ala) variant of CRBN (Protein cereblon)
P82A (p.Pro82Ala) in CRBN (Protein cereblon) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P82A (p.Pro82Ala) variant details
- p.Pro82Ala
- cosmic curated COSV10457
- gnomAD rs1444481708
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.70
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available