P17L (p.Pro17Leu) variant of DIP2B (Q9P265)
P17L (p.Pro17Leu) in DIP2B (Q9P265) 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 0.71 / 1. The record also includes population frequency data and structural context.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- rs1384765015
- ClinGen CA384819023
- ClinVar RCV004352181
- TOPMed rs1384765015
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.64
- MetaLR 0.82
- MetaSVM 0.71
- CADD 26.30
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available