L10F (p.Leu10Phe) variant of CD40 (P25942)
L10F (p.Leu10Phe) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- gnomAD 20-46118371-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.14
- CADD 15.00
- PolyPhen-2 0.02
- SIFT 0.19
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available