P102L (p.Pro102Leu) variant of NOD1 (Q9Y239)
P102L (p.Pro102Leu) 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 0.44 / 1. The record also includes population frequency data and structural context.
P102L (p.Pro102Leu) variant details
- p.Pro102Leu
- rs138824111
- ClinGen CA4205260
- ClinVar RCV004487884
- 1000Genomes rs138824111
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.35
- CADD 23.50
- PolyPhen-2 0.31
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available