A4T (p.Ala4Thr) variant of SETD5 (Q9C0A6)
A4T (p.Ala4Thr) 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 0.56 / 1. The record also includes population frequency data and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- TOPMed rs1210687040
- gnomAD rs1210687040
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.34
- MetaLR 0.77
- MetaSVM 0.58
- CADD 26.80
- PolyPhen-2 0.76
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available