R114G (p.Arg114Gly) variant of CARD11 (Q9BXL7)
R114G (p.Arg114Gly) in CARD11 (Q9BXL7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R114G (p.Arg114Gly) variant details
- p.Arg114Gly
- Ensembl rs2115090397
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.37
- CADD 25.30
- PolyPhen-2 0.52
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available