L57M (p.Leu57Met) variant of NLRP1 (Q9C000)
L57M (p.Leu57Met) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
L57M (p.Leu57Met) variant details
- p.Leu57Met
- gnomAD rs1295474859
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 19.90
- PolyPhen-2 0.42
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)