F34S (p.Phe34Ser) variant of NOD2 (Q9HC29)
F34S (p.Phe34Ser) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
F34S (p.Phe34Ser) variant details
- p.Phe34Ser
- gnomAD 16-50699572-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- MetaLR 0.09
- MetaSVM -1.04
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available