H104Y (p.His104Tyr) variant of NLRP1 (Q9C000)
H104Y (p.His104Tyr) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
H104Y (p.His104Tyr) variant details
- p.His104Tyr
- rs762231366
- ClinGen CA8327608
- ClinVar RCV003881847
- ExAC rs762231366
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 8.96
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)