K47R (p.Lys47Arg) variant of NLRP1 (Q9C000)
K47R (p.Lys47Arg) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
K47R (p.Lys47Arg) variant details
- p.Lys47Arg
- gnomAD rs1905983083
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- CADD 20.70
- PolyPhen-2 0.54
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)