T70A (p.Thr70Ala) variant of CD40 (P25942)
T70A (p.Thr70Ala) 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 0.11 / 1. The record also includes population frequency data and structural context.
T70A (p.Thr70Ala) variant details
- p.Thr70Ala
- rs2145592034
- ClinGen CA409203747
- ClinVar RCV001969866
- Ensembl rs2145592034
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.06
- CADD 7.28
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available