L127V (p.Leu127Val) variant of CDH2 (Cadherin-2)
L127V (p.Leu127Val) in CDH2 (Cadherin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
L127V (p.Leu127Val) variant details
- p.Leu127Val
- ExAC rs781533778
- TOPMed rs781533778
- gnomAD rs781533778
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0912
- REVEL 0.05
- MetaLR 0.09
- MetaSVM -1.04
- CADD 2.10
- PolyPhen-2 0.00
- SIFT 0.69
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available