A62S (p.Ala62Ser) variant of CD28 (P10747)
A62S (p.Ala62Ser) in CD28 (P10747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A62S (p.Ala62Ser) variant details
- p.Ala62Ser
- 1000Genomes rs187859903
- ExAC rs187859903
- TOPMed rs187859903
- gnomAD rs187859903
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.08
- MetaLR 0.07
- MetaSVM -1.07
- CADD 13.00
- PolyPhen-2 0.06
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available