L5P (p.Leu5Pro) variant of CD28 (P10747)
L5P (p.Leu5Pro) in CD28 (P10747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- ExAC rs780493602
- TOPMed rs780493602
- gnomAD rs780493602
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.61
- MetaLR 0.69
- MetaSVM -0.36
- CADD 26.10
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available