A66S (p.Ala66Ser) variant of NLRP1 (Q9C000)
A66S (p.Ala66Ser) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
A66S (p.Ala66Ser) variant details
- p.Ala66Ser
- TOPMed rs1397680252
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 16.60
- PolyPhen-2 0.54
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)