V94M (p.Val94Met) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
V94M (p.Val94Met) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
V94M (p.Val94Met) variant details
- p.Val94Met
- Ensembl rs2102747105
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.01
- CADD 13.80
- PolyPhen-2 0.10
- SIFT 0.06
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available