P27T (p.Pro27Thr) variant of POLH (DNA polymerase eta)
P27T (p.Pro27Thr) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P27T (p.Pro27Thr) variant details
- p.Pro27Thr
- gnomAD 6-43582398-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.18
- MetaLR 0.79
- MetaSVM 0.75
- CADD 25.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available