T3I (p.Thr3Ile) variant of POLH (DNA polymerase eta)
T3I (p.Thr3Ile) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T3I (p.Thr3Ile) variant details
- p.Thr3Ile
- gnomAD 6-43582327-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.05
- ESM-1b 0.16
- AlphaMissense 0.08
- MetaLR 0.05
- MetaSVM -1.08
- CADD 15.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available