E86D (p.Glu86Asp) variant of NFKB2 (Q00653)
E86D (p.Glu86Asp) in NFKB2 (Q00653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E86D (p.Glu86Asp) variant details
- p.Glu86Asp
- gnomAD 10-102396918-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- MetaLR 0.05
- MetaSVM -1.00
- CADD 22.20
- PolyPhen-2 0.23
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available