H62Q (p.His62Gln) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
H62Q (p.His62Gln) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
H62Q (p.His62Gln) variant details
- p.His62Gln
- ExAC rs755617552
- TOPMed rs755617552
- gnomAD rs755617552
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.02
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.49
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available