A2V (p.Ala2Val) variant of NLRP1 (Q9C000)
A2V (p.Ala2Val) 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 0.41 / 1. The record also includes population frequency data.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs2151833072
- ClinGen CA397391396
- ClinVar RCV001999359
- Ensembl rs2151833072
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- CADD 22.90
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)