Q31P (p.Gln31Pro) variant of NOD2 (Q9HC29)
Q31P (p.Gln31Pro) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Q31P (p.Gln31Pro) variant details
- p.Gln31Pro
- rs750745611
- gnomAD 16-50699533-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- MetaLR 0.09
- MetaSVM -1.06
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available