S78P (p.Ser78Pro) variant of CD40LG (CD40 ligand)
S78P (p.Ser78Pro) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Hyper-IgM syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S78P (p.Ser78Pro) variant details
- p.Ser78Pro
- rs200672738
- ClinGen CA10528093
- ClinVar RCV002068672
- ClinVar RCV004962955
- Conflicting interpretations
- Inborn genetic diseases; Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.15
- MetaLR 0.20
- MetaSVM -0.96
- CADD 8.68
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Hyper-IgM syndrome type 1)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)