E144K (p.Glu144Lys) variant of CD40 (P25942)
E144K (p.Glu144Lys) in CD40 (P25942) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hyper-IgM syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E144K (p.Glu144Lys) variant details
- p.Glu144Lys
- ExAC rs770600305
- TOPMed rs770600305
- gnomAD rs770600305
- Likely pathogenic
- Hyper-IgM syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.09
- CADD 20.20
- PolyPhen-2 0.18
- SIFT 0.05
- ClinVar: Likely pathogenic (Hyper-IgM syndrome type 3)
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available