E41D (p.Glu41Asp) variant of NFKBIA (NF-kappa-B inhibitor alpha)
E41D (p.Glu41Asp) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
E41D (p.Glu41Asp) variant details
- p.Glu41Asp
- cosmic curated COSV10605
- Ensembl rs1566591059
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.03
- MetaLR 0.24
- MetaSVM -0.94
- CADD 9.70
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available