p.Ala18 Gly20del variant of POLD1 (P28340)
p.Ala18 Gly20del in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala18 Gly20del variant details
- rs1555789043
- gnomAD 19-50398900-CGGGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 15.10
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available