D16N (p.Asp16Asn) variant of POLE (Q07864)
D16N (p.Asp16Asn) in POLE (Q07864) 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 0.20 / 1. The record also includes population frequency data and structural context.
D16N (p.Asp16Asn) variant details
- p.Asp16Asn
- rs1241114520
- ClinGen CA387373365
- ClinVar RCV003540014
- gnomAD rs1241114520
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.05
- CADD 17.40
- PolyPhen-2 0.04
- SIFT 0.46
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available