S39T (p.Ser39Thr) variant of ID3 (Q02535)
S39T (p.Ser39Thr) 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 0.30 / 1. The record also includes population frequency data and structural context.
S39T (p.Ser39Thr) variant details
- p.Ser39Thr
- ExAC rs750689669
- TOPMed rs750689669
- gnomAD rs750689669
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.11
- MetaLR 0.20
- MetaSVM -0.81
- CADD 22.40
- PolyPhen-2 0.19
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available