T71S (p.Thr71Ser) variant of NFKBIA (NF-kappa-B inhibitor alpha)
T71S (p.Thr71Ser) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
T71S (p.Thr71Ser) variant details
- p.Thr71Ser
- TOPMed rs1178195524
- gnomAD rs1178195524
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.08
- MetaLR 0.32
- MetaSVM -0.65
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available