D36N (p.Asp36Asn) variant of NFKB2 (Q00653)
D36N (p.Asp36Asn) in NFKB2 (Q00653) 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 0.29 / 1. The record also includes structural context.
D36N (p.Asp36Asn) variant details
- p.Asp36Asn
- rs2135428891
- ClinGen CA377895924
- ClinVar RCV001760808
- Ensembl rs2135428891
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- AlphaMissense 0.09
- MetaLR 0.09
- MetaSVM -1.08
- PolyPhen-2 0.01
- SIFT 0.22
- EVE 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available