E23K (p.Glu23Lys) variant of NLRP1 (Q9C000)
E23K (p.Glu23Lys) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- cosmic curated COSV10457
- Ensembl rs868216905
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 15.00
- PolyPhen-2 0.03
- SIFT 0.13
- Population evidence available