S113F (p.Ser113Phe) variant of NLRP1 (Q9C000)
S113F (p.Ser113Phe) 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 0.47 / 1.
S113F (p.Ser113Phe) variant details
- p.Ser113Phe
- rs201858694
- NCI-TCGA Cosmic COSV5257
- TOPMed rs201858694
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- AlphaMissense 0.24
- MetaLR 0.39
- MetaSVM -0.68
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- UniProt: Variant assessed as somatic; moderate impact.