L10I (p.Leu10Ile) variant of CD40 (P25942)
L10I (p.Leu10Ile) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L10I (p.Leu10Ile) variant details
- p.Leu10Ile
- ExAC rs748416131
- TOPMed rs748416131
- gnomAD rs748416131
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.26
- CADD 18.50
- PolyPhen-2 0.27
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.0002)
- Structural context available