L60V (p.Leu60Val) variant of CRBN (Protein cereblon)
L60V (p.Leu60Val) in CRBN (Protein cereblon) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L60V (p.Leu60Val) variant details
- p.Leu60Val
- ExAC rs760002909
- gnomAD rs760002909
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.24
- CADD 23.30
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available