A72S (p.Ala72Ser) variant of NFKB1 (P19838)
A72S (p.Ala72Ser) in NFKB1 (P19838) 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 0.46 / 1. The record also includes population frequency data and structural context.
A72S (p.Ala72Ser) variant details
- p.Ala72Ser
- rs2149127937
- ClinGen CA357957725
- ClinVar RCV002001851
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- AlphaMissense 0.45
- MetaLR 0.24
- MetaSVM -0.68
- PolyPhen-2 0.70
- SIFT 0.02
- EVE 0.75
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available