Q25H (p.Gln25His) variant of NLRP1 (Q9C000)
Q25H (p.Gln25His) in NLRP1 (Q9C000) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
Q25H (p.Gln25His) variant details
- p.Gln25His
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 16.50
- PolyPhen-2 0.80
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)