A118T (p.Ala118Thr) variant of CDH2 (Cadherin-2)
A118T (p.Ala118Thr) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A118T (p.Ala118Thr) variant details
- p.Ala118Thr
- rs17445840
- ClinGen CA8923722
- cosmic curated COSV52279
- ClinVar RCV001681930
- Benign/Likely benign
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -1.06
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.67
- ClinVar: Benign/Likely benign (not provided; not specified)
- EBI: Benign (in dbSNP:rs17445840)
- UniProt: Benign (in dbSNP:rs17445840)
- Most common in the HGDP:XIBO population (allele frequency 0.22)
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)