P103L (p.Pro103Leu) variant of NLRP1 (Q9C000)
P103L (p.Pro103Leu) 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 0.46 / 1.
P103L (p.Pro103Leu) variant details
- p.Pro103Leu
- rs1247446949
- ClinGen CA397390244
- ClinVar RCV002301954
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- AlphaMissense 0.15
- MetaLR 0.35
- MetaSVM -0.75
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance