L22P (p.Leu22Pro) variant of ID3 (Q02535)
L22P (p.Leu22Pro) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- 1000Genomes rs41268121
- ESP rs41268121
- ExAC rs41268121
- TOPMed rs41268121
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.77
- MetaLR 0.57
- MetaSVM 0.24
- CADD 29.70
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the 1KG:CEU population (allele frequency 0.0084)
- Structural context available