P51A (p.Pro51Ala) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
P51A (p.Pro51Ala) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P51A (p.Pro51Ala) variant details
- p.Pro51Ala
- rs915323395
- gnomAD 14-20345036-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.06
- CADD 4.11
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available