A104S (p.Ala104Ser) variant of NFKB2 (Q00653)
A104S (p.Ala104Ser) in NFKB2 (Q00653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A104S (p.Ala104Ser) variant details
- p.Ala104Ser
- gnomAD 10-102396970-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- MetaLR 0.18
- MetaSVM -0.79
- CADD 27.80
- PolyPhen-2 0.80
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available