P56S (p.Pro56Ser) variant of NFKBIA (NF-kappa-B inhibitor alpha)
P56S (p.Pro56Ser) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P56S (p.Pro56Ser) variant details
- p.Pro56Ser
- TOPMed rs2052767477
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.10
- MetaLR 0.11
- MetaSVM -1.01
- CADD 16.80
- PolyPhen-2 0.03
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available