E75K (p.Glu75Lys) variant of NLRP1 (Q9C000)
E75K (p.Glu75Lys) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data.
E75K (p.Glu75Lys) variant details
- p.Glu75Lys
- cosmic curated COSV52573
- Missense
- Variant Prioritization Score for Impact Estimate 0.0584
- CADD 0.61
- PolyPhen-2 0.01
- SIFT 0.20
- Population evidence available