A67V (p.Ala67Val) variant of NLRP3 (Q96P20)
A67V (p.Ala67Val) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A67V (p.Ala67Val) variant details
- p.Ala67Val
- gnomAD 1-247418994-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.44
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available