V49M (p.Val49Met) variant of CDH2 (Cadherin-2)
V49M (p.Val49Met) 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 0.28 / 1. The record also includes population frequency data and structural context.
V49M (p.Val49Met) variant details
- p.Val49Met
- rs2510778241
- ClinGen CA402244474
- ClinVar RCV003687952
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.09
- MetaLR 0.13
- MetaSVM -0.97
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.04
- 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