H62R (p.His62Arg) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
H62R (p.His62Arg) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
H62R (p.His62Arg) variant details
- p.His62Arg
- ExAC rs753181414
- gnomAD rs753181414
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.07
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available