S32I (p.Ser32Ile) variant of POLD1 (P28340)
S32I (p.Ser32Ile) in POLD1 (P28340) is a protein-truncating 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.
S32I (p.Ser32Ile) variant details
- p.Ser32Ile
- rs1331967965
- gnomAD 19-50398941-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 23.10
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available
- Literature evidence available