P94L (p.Pro94Leu) variant of CDH2 (Cadherin-2)
P94L (p.Pro94Leu) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P94L (p.Pro94Leu) variant details
- p.Pro94Leu
- rs756638795
- ClinGen CA8923733
- ClinVar RCV002028480
- ClinVar RCV005804461
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.13
- MetaLR 0.08
- MetaSVM -1.03
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.14
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-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)