D72A (p.Asp72Ala) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
D72A (p.Asp72Ala) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D72A (p.Asp72Ala) variant details
- p.Asp72Ala
- ESP rs147105590
- ExAC rs147105590
- TOPMed rs147105590
- gnomAD rs147105590
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.10
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available