L469F (p.Leu469Phe) variant of NOD2 (Q9HC29)
L469F (p.Leu469Phe) in NOD2 (Q9HC29) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Blau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature.
L469F (p.Leu469Phe) variant details
- p.Leu469Phe
- rs104895460
- ClinGen CA117020
- ClinVar RCV000004959
- UniProt VAR 012685
- Pathogenic
- Blau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- AlphaMissense 0.46
- MetaLR 0.34
- MetaSVM -0.11
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.24
- ClinVar: Pathogenic (Blau syndrome)
- EBI: Pathogenic (in BLAUS)
- UniProt: Pathogenic (in BLAUS)
- Cited in: CARD15 mutations in Blau syndrome. (PMID 11528384)
- Cited in: Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. (PMID 12626759)