A106V (p.Ala106Val) variant of CDH2 (Cadherin-2)
A106V (p.Ala106Val) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
A106V (p.Ala106Val) variant details
- p.Ala106Val
- rs2013164007
- ClinGen CA402244258
- ClinVar RCV003314193
- Ensembl rs2013164007
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.69
- MetaLR 0.59
- MetaSVM 0.17
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available