L20S (p.Leu20Ser) variant of NFKB2 (Q00653)
L20S (p.Leu20Ser) in NFKB2 (Q00653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L20S (p.Leu20Ser) variant details
- p.Leu20Ser
- gnomAD 10-102396290-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- MetaLR 0.05
- MetaSVM -1.02
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available