A14G (p.Ala14Gly) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
A14G (p.Ala14Gly) 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.
A14G (p.Ala14Gly) variant details
- p.Ala14Gly
- rs1415110483
- gnomAD 14-20343682-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.02
- AlphaMissense 0.12
- MetaLR 0.02
- MetaSVM -0.92
- CADD 11.50
- PolyPhen-2 0.46
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available