Y89C (p.Tyr89Cys) variant of NFKB1 (P19838)
Y89C (p.Tyr89Cys) 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 0.43 / 1. The record also includes structural context.
Y89C (p.Tyr89Cys) variant details
- p.Tyr89Cys
- rs764399130
- ClinGen CA357958720
- ClinVar RCV003055789
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.44
- MetaLR 0.30
- MetaSVM -0.43
- PolyPhen-2 0.04
- SIFT 0.04
- EVE 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available