P70A (p.Pro70Ala) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
P70A (p.Pro70Ala) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P70A (p.Pro70Ala) variant details
- p.Pro70Ala
- rs746511446
- gnomAD 14-20345429-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.13
- CADD 21.60
- PolyPhen-2 0.28
- SIFT 0.12
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available