Q60H (p.Gln60His) variant of NLRP1 (Q9C000)
Q60H (p.Gln60His) in NLRP1 (Q9C000) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
Q60H (p.Gln60His) variant details
- p.Gln60His
- ExAC rs745653895
- TOPMed rs745653895
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- CADD 16.60
- PolyPhen-2 0.60
- SIFT 0.09
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available