L10V (p.Leu10Val) variant of NLRP3 (Q96P20)
L10V (p.Leu10Val) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L10V (p.Leu10Val) variant details
- p.Leu10Val
- gnomAD 1-247418822-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.60
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available