K59E (p.Lys59Glu) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
K59E (p.Lys59Glu) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K59E (p.Lys59Glu) variant details
- p.Lys59Glu
- gnomAD rs1426571960
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.09
- CADD 23.50
- PolyPhen-2 0.14
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available