A52V (p.Ala52Val) variant of NOD1 (Q9Y239)
A52V (p.Ala52Val) 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 0.10 / 1. The record also includes population frequency data and structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- rs1332709505
- ClinGen CA367137203
- NCI-TCGA Cosmic COSV5611
- ClinVar RCV004266888
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.06
- CADD 2.44
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available