A31S (p.Ala31Ser) variant of NFKB2 (Q00653)
A31S (p.Ala31Ser) in NFKB2 (Q00653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A31S (p.Ala31Ser) variant details
- p.Ala31Ser
- gnomAD 10-102396322-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- MetaLR 0.05
- MetaSVM -1.07
- CADD 14.90
- PolyPhen-2 0.28
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available