H50Q (p.His50Gln) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
H50Q (p.His50Gln) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
H50Q (p.His50Gln) variant details
- p.His50Gln
- cosmic curated COSV10652
- gnomAD rs1665054322
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.14
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available