L9V (p.Leu9Val) variant of NFKB2 (Q00653)
L9V (p.Leu9Val) 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.
L9V (p.Leu9Val) variant details
- p.Leu9Val
- gnomAD 10-102396256-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- MetaLR 0.14
- MetaSVM -1.01
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.08
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available