M43L (p.Met43Leu) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
M43L (p.Met43Leu) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
M43L (p.Met43Leu) variant details
- p.Met43Leu
- TOPMed rs1220828656
- gnomAD rs1220828656
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.15
- CADD 18.30
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available