H136R (p.His136Arg) variant of NOD1 (Q9Y239)
H136R (p.His136Arg) 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 0.29 / 1. The record also includes population frequency data and structural context.
H136R (p.His136Arg) variant details
- p.His136Arg
- rs547986895
- ClinGen CA4205210
- ClinVar RCV004363675
- ExAC rs547986895
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.14
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available