T755N (p.Thr755Asn) variant of NLRP1 (Q9C000)
T755N (p.Thr755Asn) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Respiratory papillomatosis, juvenile recurrent, congenital. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature.
T755N (p.Thr755Asn) variant details
- p.Thr755Asn
- rs1597458411
- ClinGen CA397382576
- ClinVar RCV001027400
- Ensembl rs1597458411
- Pathogenic
- Respiratory papillomatosis, juvenile recurrent, congenital
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- AlphaMissense 0.33
- MetaLR 0.24
- MetaSVM -0.89
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.62
- ClinVar: Pathogenic (Respiratory papillomatosis, juvenile recurrent, congenital)
- EBI: Pathogenic (in JRRP)
- UniProt: Pathogenic (in JRRP)
- Cited in: Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis. (PMID 31484767)