V39M (p.Val39Met) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
V39M (p.Val39Met) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
V39M (p.Val39Met) variant details
- p.Val39Met
- cosmic curated COSV64687
- ESP rs142025196
- ExAC rs142025196
- TOPMed rs142025196
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.31
- CADD 29.10
- PolyPhen-2 0.97
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available