H72D (p.His72Asp) variant of NLRP1 (Q9C000)
H72D (p.His72Asp) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
H72D (p.His72Asp) variant details
- p.His72Asp
- gnomAD rs1463320467
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 16.00
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 7.4e-06)