L2H (p.Leu2His) variant of CD28 (P10747)
L2H (p.Leu2His) in CD28 (P10747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L2H (p.Leu2His) variant details
- p.Leu2His
- gnomAD 2-203706701-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.25
- MetaLR 0.30
- MetaSVM -0.85
- CADD 24.80
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available