P24L (p.Pro24Leu) variant of NOD2 (Q9HC29)
P24L (p.Pro24Leu) in NOD2 (Q9HC29) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autoinflammatory syndrome; Blau syndrome; Regional enteritis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- rs149122717
- ClinGen CA8051172
- ClinVar RCV002261239
- ClinVar RCV002544508
- Conflicting interpretations
- Autoinflammatory syndrome; Blau syndrome; Regional enteritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- MetaLR 0.12
- MetaSVM -1.02
- CADD 8.50
- SIFT 0.37
- ClinVar: Conflicting classifications of pathogenicity (Autoinflammatory syndrome; Blau syndrome; Regional enteritis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 0.045)
- Structural context available