G89V (p.Gly89Val) variant of NLRP1 (Q9C000)
G89V (p.Gly89Val) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
G89V (p.Gly89Val) variant details
- p.Gly89Val
- ExAC rs766597944
- gnomAD rs766597944
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- CADD 2.29
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)