S49N (p.Ser49Asn) variant of CD40 (P25942)
S49N (p.Ser49Asn) 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.
S49N (p.Ser49Asn) variant details
- p.Ser49Asn
- rs1299633835
- ClinGen CA409203370
- ClinVar RCV002013670
- gnomAD rs1299633835
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.19
- CADD 0.74
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available