P27L (p.Pro27Leu) variant of POLH (DNA polymerase eta)
P27L (p.Pro27Leu) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- ESP rs376606785
- ExAC rs376606785
- gnomAD rs376606785
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- ESM-1b 1.00
- AlphaMissense 0.20
- Structural context available