V53L (p.Val53Leu) variant of NLRP1 (Q9C000)
V53L (p.Val53Leu) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar 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 0.24 / 1. The record also includes population frequency data.
V53L (p.Val53Leu) variant details
- p.Val53Leu
- TOPMed rs953605073
- gnomAD rs953605073
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 16.70
- PolyPhen-2 0.15
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)