S65R (p.Ser65Arg) variant of CD40 (P25942)
S65R (p.Ser65Arg) in CD40 (P25942) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S65R (p.Ser65Arg) variant details
- p.Ser65Arg
- 1000Genomes rs202208745
- ExAC rs202208745
- gnomAD rs202208745
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.25
- CADD 16.80
- PolyPhen-2 0.28
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available