E26K (p.Glu26Lys) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
E26K (p.Glu26Lys) 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 0.32 / 1. The record also includes population frequency data and structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- NCI-TCGA Cosmic COSV6468
- cosmic curated COSV64687
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.11
- CADD 23.40
- PolyPhen-2 0.12
- SIFT 0.49
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available