C72R (p.Cys72Arg) variant of POLH (DNA polymerase eta)
C72R (p.Cys72Arg) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
C72R (p.Cys72Arg) variant details
- p.Cys72Arg
- cosmic curated COSV10592
- ExAC rs758211914
- TOPMed rs758211914
- gnomAD rs758211914
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.80
- MetaSVM 0.87
- CADD 28.80
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available