S39T (p.Ser39Thr) variant of CD28 (P10747)
S39T (p.Ser39Thr) in CD28 (P10747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S39T (p.Ser39Thr) variant details
- p.Ser39Thr
- rs551715108
- ClinGen CA2066882
- ClinVar RCV004078888
- ExAC rs551715108
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.06
- MetaLR 0.28
- MetaSVM -0.80
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 0.17)
- Structural context available