M14R (p.Met14Arg) variant of CRBN (Protein cereblon)
M14R (p.Met14Arg) in CRBN (Protein cereblon) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
M14R (p.Met14Arg) variant details
- p.Met14Arg
- ExAC rs781471783
- gnomAD rs781471783
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.27
- CADD 32.00
- PolyPhen-2 0.88
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0028)
- Structural context available