A66V (p.Ala66Val) variant of NLRP1 (Q9C000)
A66V (p.Ala66Val) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature.
A66V (p.Ala66Val) variant details
- p.Ala66Val
- rs1057519493
- ClinGen CA16044250
- ClinVar RCV000416502
- ClinVar RCV000479210
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.72
- MetaLR 0.30
- MetaSVM -0.74
- PolyPhen-2 0.94
- SIFT 0.01
- EVE 0.30
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in MSPC)
- UniProt: Pathogenic (in MSPC)
- Cited in: Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation. (PMID 27662089)
- Cited in: Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. (PMID 23349227)