A4V (p.Ala4Val) variant of NLRP3 (Q96P20)
A4V (p.Ala4Val) 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.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- rs757020562
- gnomAD 1-247418805-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.12
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available