K49N (p.Lys49Asn) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
K49N (p.Lys49Asn) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
K49N (p.Lys49Asn) variant details
- p.Lys49Asn
- gnomAD 14-20345032-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.02
- CADD 9.43
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available