K47E (p.Lys47Glu) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
K47E (p.Lys47Glu) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
K47E (p.Lys47Glu) variant details
- p.Lys47Glu
- TOPMed rs1360722722
- gnomAD rs1360722722
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.38
- CADD 29.30
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available