D18E (p.Asp18Glu) variant of NFKB1 (P19838)
D18E (p.Asp18Glu) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
D18E (p.Asp18Glu) variant details
- p.Asp18Glu
- gnomAD 4-102529850-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0486
- REVEL 0.03
- CADD 3.26
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available