P28Q (p.Pro28Gln) variant of NFKB1 (P19838)
P28Q (p.Pro28Gln) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P28Q (p.Pro28Gln) variant details
- p.Pro28Gln
- gnomAD 4-102529879-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.03
- CADD 20.50
- PolyPhen-2 0.28
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available