M43T (p.Met43Thr) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
M43T (p.Met43Thr) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
M43T (p.Met43Thr) variant details
- p.Met43Thr
- 1000Genomes rs202022212
- ExAC rs202022212
- TOPMed rs202022212
- gnomAD rs202022212
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.42
- CADD 22.60
- PolyPhen-2 0.28
- SIFT 0.39
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available