K22E (p.Lys22Glu) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
K22E (p.Lys22Glu) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
K22E (p.Lys22Glu) variant details
- p.Lys22Glu
- ExAC rs754981299
- gnomAD rs754981299
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.40
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available