S70C (p.Ser70Cys) variant of NFKB2 (Q00653)
S70C (p.Ser70Cys) 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 0.67 / 1. The record also includes population frequency data and structural context.
S70C (p.Ser70Cys) variant details
- p.Ser70Cys
- rs2135429484
- ClinGen CA377896159
- ClinVar RCV001356252
- Ensembl rs2135429484
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 29.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available