L38P (p.Leu38Pro) variant of ID3 (Q02535)
L38P (p.Leu38Pro) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L38P (p.Leu38Pro) variant details
- p.Leu38Pro
- TOPMed rs1169132742
- gnomAD rs1169132742
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.62
- MetaLR 0.48
- MetaSVM -0.01
- CADD 31.00
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available