Q132K (p.Gln132Lys) variant of NOD1 (Q9Y239)
Q132K (p.Gln132Lys) in NOD1 (Q9Y239) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
Q132K (p.Gln132Lys) variant details
- p.Gln132Lys
- rs759798980
- ClinGen CA367135635
- ClinVar RCV004178437
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.13
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available