M70V (p.Met70Val) variant of NLRP3 (Q96P20)
M70V (p.Met70Val) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
M70V (p.Met70Val) variant details
- p.Met70Val
- gnomAD 1-247419002-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.20
- CADD 16.90
- PolyPhen-2 0.27
- SIFT 0.67
- Population evidence available
- Structural context available
- Literature evidence available