R35H (p.Arg35His) variant of NOD1 (Q9Y239)
R35H (p.Arg35His) in NOD1 (Q9Y239) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
R35H (p.Arg35His) variant details
- p.Arg35His
- rs764315889
- ClinGen CA4205329
- ClinVar RCV004072552
- ExAC rs764315889
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0937
- REVEL 0.03
- CADD 15.60
- PolyPhen-2 0.03
- SIFT 0.16
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available