S7W (p.Ser7Trp) variant of NOD2 (Q9HC29)
S7W (p.Ser7Trp) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S7W (p.Ser7Trp) variant details
- p.Ser7Trp
- rs768775316
- gnomAD 16-50699503-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- MetaLR 0.31
- MetaSVM -0.30
- CADD 24.20
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available