K48I (p.Lys48Ile) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
K48I (p.Lys48Ile) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K48I (p.Lys48Ile) variant details
- p.Lys48Ile
- rs1244487469
- gnomAD 14-20345028-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.10
- CADD 22.80
- PolyPhen-2 0.29
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available