V116M (p.Val116Met) variant of NLRP1 (Q9C000)
V116M (p.Val116Met) 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 0.44 / 1.
V116M (p.Val116Met) variant details
- p.Val116Met
- rs2151831648
- ClinGen CA397390176
- ClinVar RCV002042156
- Ensembl rs2151831648
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- AlphaMissense 0.26
- MetaLR 0.40
- MetaSVM -0.68
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance