S39P (p.Ser39Pro) variant of NOD2 (Q9HC29)
S39P (p.Ser39Pro) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S39P (p.Ser39Pro) variant details
- p.Ser39Pro
- rs760962549
- gnomAD 16-50699613-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- MetaLR 0.09
- MetaSVM -1.02
- CADD 24.50
- PolyPhen-2 0.89
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available