A84P (p.Ala84Pro) variant of NLRP1 (Q9C000)
A84P (p.Ala84Pro) in NLRP1 (Q9C000) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data.
A84P (p.Ala84Pro) variant details
- p.Ala84Pro
- 1000Genomes rs202167110
- ExAC rs202167110
- TOPMed rs202167110
- gnomAD rs202167110
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0969
- CADD 4.84
- PolyPhen-2 0.64
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available