L82Q (p.Leu82Gln) variant of NLRP1 (Q9C000)
L82Q (p.Leu82Gln) in NLRP1 (Q9C000) 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.
L82Q (p.Leu82Gln) variant details
- p.Leu82Gln
- ExAC rs757173231
- gnomAD rs757173231
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 19.70
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)