K105E (p.Lys105Glu) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
K105E (p.Lys105Glu) in PARP1 (Poly [ADP-ribose] polymerase 1) 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 0.29 / 1. The record also includes population frequency data and structural context.
K105E (p.Lys105Glu) variant details
- p.Lys105Glu
- rs1289654275
- TOPMed rs1289654275
- gnomAD rs1289654275
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.17
- CADD 17.90
- PolyPhen-2 0.05
- SIFT 0.74
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available