A29T (p.Ala29Thr) variant of NLRP1 (Q9C000)
A29T (p.Ala29Thr) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- rs971095282
- ClinGen CA287293717
- ClinVar RCV003559725
- TOPMed rs971095282
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0539
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.4e-05)