A11V (p.Ala11Val) variant of POLE (Q07864)
A11V (p.Ala11Val) 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 0.14 / 1. The record also includes population frequency data and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- rs1060500821
- ClinGen CA16613759
- ClinVar RCV003766493
- gnomAD rs1060500821
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.01
- CADD 7.81
- PolyPhen-2 0.00
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available