K48T (p.Lys48Thr) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
K48T (p.Lys48Thr) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K48T (p.Lys48Thr) variant details
- p.Lys48Thr
- rs1244487469
- gnomAD 14-20345028-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.10
- CADD 18.50
- PolyPhen-2 0.07
- SIFT 0.22
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available