A17T (p.Ala17Thr) variant of CD40 (P25942)
A17T (p.Ala17Thr) in CD40 (P25942) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- rs770177808
- NCI-TCGA Cosmic COSV6484
- cosmic curated COSV64848
- ExAC rs770177808
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.19
- CADD 5.45
- PolyPhen-2 0.02
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available