V37del (p.Val37del) variant of POLH (DNA polymerase eta)
V37del (p.Val37del) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V37del (p.Val37del) variant details
- rs1298773264
- gnomAD 6-43582424-AGTT-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 20.60
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available