D21H (p.Asp21His) variant of NLRP3 (Q96P20)
D21H (p.Asp21His) in NLRP3 (Q96P20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Keratitis fugax hereditaria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
D21H (p.Asp21His) variant details
- p.Asp21His
- rs200154873
- UniProt VAR 080490
- Likely pathogenic
- Keratitis fugax hereditaria
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- AlphaMissense 0.68
- MetaLR 0.33
- MetaSVM -0.39
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Keratitis fugax hereditaria)
- EBI: Pathogenic (in KEFH)
- UniProt: Pathogenic (in KEFH)
- Structural context available
- Cited in: Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the… (PMID 29366613)
- Cited in: Directionality of PYD filament growth determined by the transition of NLRP3 nucleation seeds to ASC elongation. (PMID 35559676)