L127F (p.Leu127Phe) variant of CDH2 (Cadherin-2)
L127F (p.Leu127Phe) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L127F (p.Leu127Phe) variant details
- p.Leu127Phe
- rs971731737
- ClinGen CA297918373
- cosmic curated COSV52278
- ClinVar RCV002927104
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0959
- REVEL 0.04
- MetaLR 0.10
- MetaSVM -1.03
- CADD 5.00
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)