S7N (p.Ser7Asn) variant of NOD1 (Q9Y239)
S7N (p.Ser7Asn) in NOD1 (Q9Y239) 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 and structural context.
S7N (p.Ser7Asn) variant details
- p.Ser7Asn
- ESP rs61757653
- ExAC rs61757653
- TOPMed rs61757653
- gnomAD rs61757653
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.02
- CADD 4.51
- PolyPhen-2 0.02
- SIFT 0.39
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available