H53Q (p.His53Gln) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
H53Q (p.His53Gln) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. Clinical records from ClinVar, EBI, 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 0.74 / 1. The record also includes population frequency data and structural context.
H53Q (p.His53Gln) variant details
- p.His53Gln
- rs375440192
- ClinGen CA345046345
- ClinVar RCV004110356
- ESP rs375440192
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.90
- CADD 24.30
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available