L54P (p.Leu54Pro) variant of NFKBIA (NF-kappa-B inhibitor alpha)
L54P (p.Leu54Pro) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L54P (p.Leu54Pro) variant details
- p.Leu54Pro
- Ensembl rs2138834090
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.18
- MetaLR 0.15
- MetaSVM -0.94
- CADD 23.60
- PolyPhen-2 0.07
- SIFT 0.00
- Population evidence available
- Structural context available