L87V (p.Leu87Val) variant of CD40 (P25942)
L87V (p.Leu87Val) in CD40 (P25942) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L87V (p.Leu87Val) variant details
- p.Leu87Val
- rs768637864
- ClinGen CA9888426
- ClinVar RCV002636043
- ExAC rs768637864
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.21
- CADD 11.20
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available