S38I (p.Ser38Ile) variant of SETD5 (Q9C0A6)
S38I (p.Ser38Ile) in SETD5 (Q9C0A6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S38I (p.Ser38Ile) variant details
- p.Ser38Ile
- ExAC rs775518851
- TOPMed rs775518851
- gnomAD rs775518851
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.39
- MetaLR 0.57
- MetaSVM 0.05
- CADD 22.90
- PolyPhen-2 0.22
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available