K21R (p.Lys21Arg) variant of NFKBIA (NF-kappa-B inhibitor alpha)
K21R (p.Lys21Arg) in NFKBIA (NF-kappa-B inhibitor alpha) 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.
K21R (p.Lys21Arg) variant details
- p.Lys21Arg
- TOPMed rs1256239793
- gnomAD rs1256239793
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.29
- MetaLR 0.55
- MetaSVM -0.20
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available