K30R (p.Lys30Arg) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
K30R (p.Lys30Arg) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
K30R (p.Lys30Arg) variant details
- p.Lys30Arg
- Ensembl rs1665183865
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.35
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available