R38K (p.Arg38Lys) variant of NOD2 (Q9HC29)
R38K (p.Arg38Lys) 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.
R38K (p.Arg38Lys) variant details
- p.Arg38Lys
- rs772287143
- gnomAD 16-50699671-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- MetaLR 0.17
- MetaSVM -0.85
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available