F34L (p.Phe34Leu) variant of NOD2 (Q9HC29)
F34L (p.Phe34Leu) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
F34L (p.Phe34Leu) variant details
- p.Phe34Leu
- gnomAD 16-50699516-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- MetaLR 0.06
- MetaSVM -1.06
- CADD 22.00
- PolyPhen-2 0.99
- SIFT 0.64
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available