T48M (p.Thr48Met) variant of NLRP1 (Q9C000)
T48M (p.Thr48Met) 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 0.07 / 1. The record also includes population frequency data.
T48M (p.Thr48Met) variant details
- p.Thr48Met
- rs368786124
- ClinGen CA8327643
- ClinVar RCV002039466
- ExAC rs368786124
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0705
- CADD 2.03
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PAPUANHIGHLANDS population (allele frequency 0.25)