P24Q (p.Pro24Gln) variant of NOD2 (Q9HC29)
P24Q (p.Pro24Gln) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P24Q (p.Pro24Gln) variant details
- p.Pro24Gln
- gnomAD 16-50697314-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- MetaLR 0.13
- MetaSVM -1.00
- CADD 5.70
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available