W74L (p.Trp74Leu) variant of NLRP1 (Q9C000)
W74L (p.Trp74Leu) 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 0.40 / 1. The record also includes population frequency data.
W74L (p.Trp74Leu) variant details
- p.Trp74Leu
- rs1905971696
- ClinGen CA397390808
- ClinVar RCV003714799
- TOPMed rs1905971696
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- CADD 7.09
- PolyPhen-2 0.02
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available