N30S (p.Asn30Ser) variant of NLRP1 (Q9C000)
N30S (p.Asn30Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data.
N30S (p.Asn30Ser) variant details
- p.Asn30Ser
- rs1388671158
- ClinGen CA397391213
- cosmic curated COSV99335
- ClinVar RCV001946321
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0671
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)