G44V (p.Gly44Val) variant of NLRP3 (Q96P20)
G44V (p.Gly44Val) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G44V (p.Gly44Val) variant details
- p.Gly44Val
- rs745630984
- gnomAD 1-247418925-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.26
- CADD 23.50
- Population evidence available
- Structural context available
- Literature evidence available