P9Q (p.Pro9Gln) variant of POLD1 (P28340)
P9Q (p.Pro9Gln) in POLD1 (P28340) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
P9Q (p.Pro9Gln) variant details
- p.Pro9Gln
- cosmic curated COSV10148
- Ensembl rs1555789025
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.04
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available