N34S (p.Asn34Ser) variant of CD40 (P25942)
N34S (p.Asn34Ser) 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 0.48 / 1. The record also includes structural context.
N34S (p.Asn34Ser) variant details
- p.Asn34Ser
- rs2145590458
- ClinGen CA409203001
- ClinVar RCV002045213
- Ensembl rs2145590458
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- AlphaMissense 0.09
- MetaLR 0.55
- MetaSVM -0.53
- PolyPhen-2 0.29
- SIFT 0.22
- EVE 0.43
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available