P119L (p.Pro119Leu) variant of NLRP1 (Q9C000)
P119L (p.Pro119Leu) 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 0.28 / 1.
P119L (p.Pro119Leu) variant details
- p.Pro119Leu
- rs2151831639
- ClinGen CA397390153
- ClinVar RCV001986192
- Ensembl rs2151831639
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- AlphaMissense 0.19
- MetaLR 0.07
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.01
- EVE 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance