P73T (p.Pro73Thr) variant of POLH (DNA polymerase eta)
P73T (p.Pro73Thr) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P73T (p.Pro73Thr) variant details
- p.Pro73Thr
- ExAC rs777311808
- gnomAD rs777311808
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.86
- MetaSVM 0.89
- CADD 25.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available