P97S (p.Pro97Ser) variant of NLRP1 (Q9C000)
P97S (p.Pro97Ser) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. 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.
P97S (p.Pro97Ser) variant details
- p.Pro97Ser
- rs200363173
- ClinGen CA8327613
- ClinVar RCV002569908
- ClinVar RCV005455550
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0713
- CADD 1.42
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- 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)