V36I (p.Val36Ile) variant of POLH (DNA polymerase eta)
V36I (p.Val36Ile) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V36I (p.Val36Ile) variant details
- p.Val36Ile
- gnomAD 6-43582425-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.23
- MetaLR 0.54
- MetaSVM -0.05
- CADD 25.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available