A62V (p.Ala62Val) variant of CRBN (Protein cereblon)
A62V (p.Ala62Val) in CRBN (Protein cereblon) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
A62V (p.Ala62Val) variant details
- p.Ala62Val
- rs774818392
- NCI-TCGA Cosmic COSV9921
- cosmic curated COSV99214
- ExAC rs774818392
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.10
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available