D80Y (p.Asp80Tyr) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
D80Y (p.Asp80Tyr) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D80Y (p.Asp80Tyr) variant details
- p.Asp80Tyr
- Ensembl rs2102747142
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.37
- CADD 27.20
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available