L14Q (p.Leu14Gln) variant of NLRP3 (Q96P20)
L14Q (p.Leu14Gln) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L14Q (p.Leu14Gln) variant details
- p.Leu14Gln
- gnomAD 1-247418844-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.57
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available