T47A (p.Thr47Ala) variant of SETD5 (Q9C0A6)
T47A (p.Thr47Ala) in SETD5 (Q9C0A6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
T47A (p.Thr47Ala) variant details
- p.Thr47Ala
- rs1038347148
- cosmic curated COSV10459
- gnomAD rs1038347148
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.25
- MetaLR 0.52
- MetaSVM -0.29
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.35
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available