T57M (p.Thr57Met) variant of CD40 (P25942)
T57M (p.Thr57Met) in CD40 (P25942) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hyper-IgM syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
T57M (p.Thr57Met) variant details
- p.Thr57Met
- rs2515708347
- ClinGen CA409203536
- ClinVar RCV003050557
- ClinVar RCV004765644
- Conflicting interpretations
- not provided; Hyper-IgM syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.64
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hyper-IgM syndrome type 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available