P27S (p.Pro27Ser) variant of POLH (DNA polymerase eta)
P27S (p.Pro27Ser) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- ExAC rs761601636
- gnomAD rs761601636
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.69
- MetaSVM 0.44
- CADD 25.50
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available