K23I (p.Lys23Ile) variant of NLRP3 (Q96P20)
K23I (p.Lys23Ile) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
K23I (p.Lys23Ile) variant details
- p.Lys23Ile
- gnomAD 1-247418865-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.36
- CADD 23.50
- PolyPhen-2 0.45
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available