G39S (p.Gly39Ser) variant of NLRP1 (Q9C000)
G39S (p.Gly39Ser) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of NLRP1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data.
G39S (p.Gly39Ser) variant details
- p.Gly39Ser
- rs774564239
- ClinGen CA8327650
- ClinVar RCV003399641
- ExAC rs774564239
- Uncertain significance
- NLRP1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.0603
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (NLRP1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7.4e-05)