A54T (p.Ala54Thr) variant of NLRP1 (Q9C000)
A54T (p.Ala54Thr) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and published literature.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- rs1057519492
- ClinGen CA16044249
- ClinVar RCV000416558
- ClinVar RCV006462606
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- CADD 23.20
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in MSPC)
- UniProt: Pathogenic (in MSPC)
- Population evidence available
- Cited in: Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and… (PMID 25050600)
- Cited in: Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation. (PMID 27662089)