Q16P (p.Gln16Pro) variant of CDH1 (Cadherin-1)
Q16P (p.Gln16Pro) in CDH1 (Cadherin-1) 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 0.31 / 1. The record also includes population frequency data and structural context.
Q16P (p.Gln16Pro) variant details
- p.Gln16Pro
- ExAC rs775705607
- gnomAD rs775705607
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.25
- AlphaMissense 0.13
- MetaLR 0.05
- MetaSVM -1.15
- CADD 23.60
- PolyPhen-2 0.61
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available