T3P (p.Thr3Pro) variant of POLH (DNA polymerase eta)
T3P (p.Thr3Pro) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
T3P (p.Thr3Pro) variant details
- p.Thr3Pro
- gnomAD 6-43582326-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.03
- MetaSVM -1.01
- CADD 10.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available