E12D (p.Glu12Asp) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
E12D (p.Glu12Asp) 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.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- cosmic curated COSV10528
- 1000Genomes rs777484474
- ExAC rs777484474
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.24
- CADD 24.40
- PolyPhen-2 0.53
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available