R8L (p.Arg8Leu) variant of NLRP1 (Q9C000)
R8L (p.Arg8Leu) 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 0.06 / 1. The record also includes population frequency data.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0558
- CADD 0.20
- PolyPhen-2 0.25
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)