G73V (p.Gly73Val) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
G73V (p.Gly73Val) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
G73V (p.Gly73Val) variant details
- p.Gly73Val
- Ensembl rs2102747162
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.80
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available