S23C (p.Ser23Cys) variant of NFKB2 (Q00653)
S23C (p.Ser23Cys) in NFKB2 (Q00653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S23C (p.Ser23Cys) variant details
- p.Ser23Cys
- gnomAD 10-102396299-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- MetaLR 0.07
- MetaSVM -1.09
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available