A17S (p.Ala17Ser) variant of CD40 (P25942)
A17S (p.Ala17Ser) in CD40 (P25942) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- rs770177808
- ClinGen CA9888333
- ClinVar RCV002725847
- ExAC rs770177808
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.18
- CADD 4.67
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available