S92G (p.Ser92Gly) variant of CDH2 (Cadherin-2)
S92G (p.Ser92Gly) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S92G (p.Ser92Gly) variant details
- p.Ser92Gly
- rs150017015
- ClinGen CA8923736
- ClinVar RCV002141507
- ClinVar RCV003903424
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.02
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available