D18A (p.Asp18Ala) variant of NFKB1 (P19838)
D18A (p.Asp18Ala) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D18A (p.Asp18Ala) variant details
- p.Asp18Ala
- rs1364913100
- gnomAD 4-102529849-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.11
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available