A5V (p.Ala5Val) variant of NFKBIA (NF-kappa-B inhibitor alpha)
A5V (p.Ala5Val) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- rs2052771143
- ClinGen CA389455504
- ClinVar RCV001757189
- Ensembl rs2052771143
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.06
- MetaLR 0.26
- MetaSVM -0.82
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available