N58I (p.Asn58Ile) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
N58I (p.Asn58Ile) in PARP2 (Poly [ADP-ribose] polymerase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
N58I (p.Asn58Ile) variant details
- p.Asn58Ile
- rs1267393159
- gnomAD 14-20345056-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.693
- CADD 19.20
- Population evidence available
- Structural context available
- Literature evidence available