Q30R (p.Gln30Arg) variant of CD40 (P25942)
Q30R (p.Gln30Arg) 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 0.65 / 1. The record also includes structural context.
Q30R (p.Gln30Arg) variant details
- p.Gln30Arg
- rs2145590363
- ClinGen CA409202933
- ClinVar RCV001958268
- Ensembl rs2145590363
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- AlphaMissense 0.19
- MetaLR 0.80
- MetaSVM 0.16
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.85
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available