S51E (p.Ser51Glu) variant of POLH (DNA polymerase eta)
S51E (p.Ser51Glu) in POLH (DNA polymerase eta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
S51E (p.Ser51Glu) variant details
- p.Ser51Glu
- rs752080248
- gnomAD 6-43583017-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.823
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available