K70T (p.Lys70Thr) variant of POLH (DNA polymerase eta)
K70T (p.Lys70Thr) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
K70T (p.Lys70Thr) variant details
- p.Lys70Thr
- gnomAD 6-43583078-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 26.50
- PolyPhen-2 0.96
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available