S38L (p.Ser38Leu) variant of NLRP1 (Q9C000)
S38L (p.Ser38Leu) 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 0.13 / 1. The record also includes population frequency data.
S38L (p.Ser38Leu) variant details
- p.Ser38Leu
- cosmic curated COSV10499
- NCI-TCGA TCGA novel
- TOPMed rs1269596817
- gnomAD rs1269596817
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 10.00
- PolyPhen-2 0.01
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)