S18L (p.Ser18Leu) variant of ID3 (Q02535)
S18L (p.Ser18Leu) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S18L (p.Ser18Leu) variant details
- p.Ser18Leu
- TOPMed rs1226961546
- gnomAD rs1226961546
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.56
- MetaLR 0.41
- MetaSVM -0.11
- CADD 24.30
- PolyPhen-2 0.23
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available