A49S (p.Ala49Ser) variant of NLRP3 (Q96P20)
A49S (p.Ala49Ser) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A49S (p.Ala49Ser) variant details
- p.Ala49Ser
- rs1467336862
- gnomAD 1-247418939-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.26
- CADD 24.10
- PolyPhen-2 0.79
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available