S7P (p.Ser7Pro) variant of NOD2 (Q9HC29)
S7P (p.Ser7Pro) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S7P (p.Ser7Pro) variant details
- p.Ser7Pro
- gnomAD 16-50697262-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- MetaLR 0.17
- MetaSVM -0.91
- CADD 6.88
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available