S106C (p.Ser106Cys) variant of G6PD (P11413)
S106C (p.Ser106Cys) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of in CNSHA1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
S106C (p.Ser106Cys) variant details
- p.Ser106Cys
- rs267606835
- ClinVar RCV000011127
- ClinVar RCV002305434
- UniProt VAR 002461
- no classification for the single variant
- in CNSHA1
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- AlphaMissense 0.14
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.08
- EVE 0.28
- ClinVar: no classification for the single variant (in CNSHA1)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Structural context available
- Cited in: Molecular abnormalities of a human glucose-6-phosphate dehydrogenase variant associated with undetectable enzyme… (PMID 1353664)
- Cited in: Neutrophil dysfunction, chronic granulomatous disease, and non-spherocytic haemolytic anaemia caused by complete… (PMID 4125296)