R24W (p.Arg24Trp) variant of NFKBIA (NF-kappa-B inhibitor alpha)
R24W (p.Arg24Trp) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R24W (p.Arg24Trp) variant details
- p.Arg24Trp
- cosmic curated COSV53752
- Ensembl rs2138834290
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.61
- MetaLR 0.57
- MetaSVM 0.16
- CADD 29.70
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available