P33S (p.Pro33Ser) variant of POLH (DNA polymerase eta)
P33S (p.Pro33Ser) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
P33S (p.Pro33Ser) variant details
- p.Pro33Ser
- ExAC rs753188996
- TOPMed rs753188996
- gnomAD rs753188996
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.87
- MetaSVM 0.95
- CADD 25.20
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available