V91I (p.Val91Ile) variant of CD40 (P25942)
V91I (p.Val91Ile) in CD40 (P25942) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V91I (p.Val91Ile) variant details
- p.Val91Ile
- cosmic curated COSV64847
- 1000Genomes rs764882779
- ExAC rs764882779
- TOPMed rs764882779
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.11
- CADD 11.80
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available