S131P (p.Ser131Pro) variant of CDH2 (Cadherin-2)
S131P (p.Ser131Pro) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S131P (p.Ser131Pro) variant details
- p.Ser131Pro
- rs183606230
- ClinGen CA8923709
- ClinVar RCV001923765
- ClinVar RCV003375448
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.04
- MetaLR 0.11
- MetaSVM -1.04
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- 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)