P42T (p.Pro42Thr) variant of NLRP1 (Q9C000)
P42T (p.Pro42Thr) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and published literature.
P42T (p.Pro42Thr) variant details
- p.Pro42Thr
- rs200014469
- ClinGen CA8327647
- ClinVar RCV001991862
- ClinVar RCV003170484
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0716
- CADD 0.07
- PolyPhen-2 0.01
- SIFT 0.76
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)