N62S (p.Asn62Ser) variant of NLRP3 (Q96P20)
N62S (p.Asn62Ser) in NLRP3 (Q96P20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N62S (p.Asn62Ser) variant details
- p.Asn62Ser
- rs2103084344
- gnomAD 1-247418979-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.08
- CADD 22.00
- PolyPhen-2 0.56
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available