A43G (p.Ala43Gly) variant of NLRP1 (Q9C000)
A43G (p.Ala43Gly) 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 0.57 / 1. The record also includes population frequency data.
A43G (p.Ala43Gly) variant details
- p.Ala43Gly
- rs2508144012
- ClinGen CA397391136
- ClinVar RCV003702758
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- CADD 12.90
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)