T11A (p.Thr11Ala) variant of SETD5 (Q9C0A6)
T11A (p.Thr11Ala) in SETD5 (Q9C0A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
T11A (p.Thr11Ala) variant details
- p.Thr11Ala
- rs2039637478
- ClinGen CA351679038
- ClinVar RCV003675542
- TOPMed rs2039637478
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.48
- MetaLR 0.91
- MetaSVM 1.03
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available