T28M (p.Thr28Met) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
T28M (p.Thr28Met) in PARP2 (Poly [ADP-ribose] polymerase 2) 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 0.11 / 1. The record also includes population frequency data and structural context.
T28M (p.Thr28Met) variant details
- p.Thr28Met
- NCI-TCGA TCGA novel
- gnomAD rs1883656573
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.03
- CADD 7.50
- PolyPhen-2 0.22
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available