S131L (p.Ser131Leu) variant of CDH2 (Cadherin-2)
S131L (p.Ser131Leu) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S131L (p.Ser131Leu) variant details
- p.Ser131Leu
- rs202040611
- ClinGen CA8923708
- ClinVar RCV003171564
- ClinVar RCV004736320
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.07
- MetaLR 0.12
- MetaSVM -1.06
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-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)