V37I (p.Val37Ile) variant of POLH (DNA polymerase eta)
V37I (p.Val37Ile) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
V37I (p.Val37Ile) variant details
- p.Val37Ile
- gnomAD 6-43582428-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.34
- MetaSVM -0.36
- CADD 25.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available