D5N (p.Asp5Asn) variant of NFKB1 (P19838)
D5N (p.Asp5Asn) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
D5N (p.Asp5Asn) variant details
- p.Asp5Asn
- gnomAD 4-102525531-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.08
- CADD 25.10
- PolyPhen-2 0.94
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available