V90L (p.Val90Leu) variant of CDH2 (Cadherin-2)
V90L (p.Val90Leu) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V90L (p.Val90Leu) variant details
- p.Val90Leu
- rs778990479
- ClinGen CA8923738
- ClinVar RCV002909630
- ClinVar RCV002932314
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.06
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)