N88S (p.Asn88Ser) variant of NFKB1 (P19838)
N88S (p.Asn88Ser) 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 0.40 / 1. The record also includes population frequency data and structural context.
N88S (p.Asn88Ser) variant details
- p.Asn88Ser
- rs763286279
- ClinGen CA3025854
- cosmic curated COSV10455
- ClinVar RCV003870944
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- AlphaMissense 0.15
- MetaLR 0.17
- MetaSVM -0.67
- PolyPhen-2 0.60
- SIFT 0.00
- EVE 0.87
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available