M77T (p.Met77Thr) variant of NLRP1 (Q9C000)
M77T (p.Met77Thr) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyske. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature.
M77T (p.Met77Thr) variant details
- p.Met77Thr
- rs397514692
- ClinGen CA018443
- ClinVar RCV000043505
- UniProt VAR 069901
- Pathogenic
- Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyske
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.90
- MetaLR 0.14
- MetaSVM -0.89
- PolyPhen-2 0.19
- SIFT 0.00
- EVE 0.56
- ClinVar: Pathogenic (Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis)
- EBI: Pathogenic (in MSPC)
- UniProt: Pathogenic (in MSPC)
- Cited in: Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. (PMID 23349227)
- Cited in: Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation. (PMID 27662089)