C16F (p.Cys16Phe) variant of POLH (DNA polymerase eta)
C16F (p.Cys16Phe) in POLH (DNA polymerase eta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
C16F (p.Cys16Phe) variant details
- p.Cys16Phe
- rs1470766623
- gnomAD 6-43582364-CTG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 31.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available