L54V (p.Leu54Val) variant of NLRP3 (Q96P20)
L54V (p.Leu54Val) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L54V (p.Leu54Val) variant details
- p.Leu54Val
- rs1475761802
- gnomAD 1-247418954-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.14
- CADD 18.90
- PolyPhen-2 0.97
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available