S35G (p.Ser35Gly) variant of CD40 (P25942)
S35G (p.Ser35Gly) in CD40 (P25942) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in bladder carcinoma cell line Hu549. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S35G (p.Ser35Gly) variant details
- p.Ser35Gly
- rs750234130
- UniProt VAR 039302
- ExAC rs750234130
- gnomAD rs750234130
- Uncertain significance
- in bladder carcinoma cell line Hu549
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.12
- CADD 9.16
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance (in bladder carcinoma cell line Hu549)
- UniProt: Uncertain significance (in bladder carcinoma cell line Hu549)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Biochemical characteristics and partial amino acid sequence of the receptor-like human B cell and carcinoma antigen… (PMID 2463309)