R70S (p.Arg70Ser) variant of CRBN (Protein cereblon)
R70S (p.Arg70Ser) in CRBN (Protein cereblon) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R70S (p.Arg70Ser) variant details
- p.Arg70Ser
- Ensembl rs753021634
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.29
- CADD 23.40
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the HGDP:BIAKA population (allele frequency 0.091)
- Structural context available