N36T (p.Asn36Thr) variant of NOD1 (Q9Y239)
N36T (p.Asn36Thr) 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 0.32 / 1. The record also includes population frequency data and structural context.
N36T (p.Asn36Thr) variant details
- p.Asn36Thr
- rs752766475
- ClinGen CA4205327
- ClinVar RCV004105802
- ExAC rs752766475
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.17
- CADD 23.80
- PolyPhen-2 0.49
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available