P97A (p.Pro97Ala) variant of NLRP1 (Q9C000)
P97A (p.Pro97Ala) 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.
P97A (p.Pro97Ala) variant details
- p.Pro97Ala
- rs200363173
- ClinGen CA8327614
- ClinVar RCV001914114
- ClinVar RCV005382272
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0667
- CADD 0.46
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.001)
- 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)