P32L (p.Pro32Leu) variant of ID3 (Q02535)
P32L (p.Pro32Leu) in ID3 (Q02535) is a missense change. Clinical records from ClinVar 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 0.39 / 1. The record also includes population frequency data and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- ExAC rs770447481
- TOPMed rs770447481
- gnomAD rs770447481
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.20
- MetaLR 0.44
- MetaSVM -0.16
- CADD 25.70
- PolyPhen-2 0.57
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available