T41A (p.Thr41Ala) variant of NLRP1 (Q9C000)
T41A (p.Thr41Ala) 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 0.06 / 1. The record also includes population frequency data.
T41A (p.Thr41Ala) variant details
- p.Thr41Ala
- rs200920244
- ClinGen CA287293621
- ClinVar RCV003698127
- TOPMed rs200920244
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0562
- CADD 0.05
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)