S9F (p.Ser9Phe) variant of NOD2 (Q9HC29)
S9F (p.Ser9Phe) in NOD2 (Q9HC29) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Regional enteritis; Blau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- rs376966894
- ClinGen CA8051165
- ClinVar RCV003792243
- Uncertain significance
- Regional enteritis; Blau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- MetaLR 0.21
- MetaSVM -0.80
- CADD 9.42
- SIFT 0.02
- ClinVar: Uncertain significance (Regional enteritis; Blau syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available