M43V (p.Met43Val) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
M43V (p.Met43Val) 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.
M43V (p.Met43Val) variant details
- p.Met43Val
- TOPMed rs1220828656
- gnomAD rs1220828656
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.15
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.73
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available