A21T (p.Ala21Thr) variant of CDH2 (Cadherin-2)
A21T (p.Ala21Thr) 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 0.32 / 1. The record also includes population frequency data and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- rs17495042
- ClinGen CA8923844
- ClinVar RCV002084752
- ClinVar RCV005628333
- Benign/Likely benign
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.06
- MetaLR 0.03
- MetaSVM -1.08
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.47
- ClinVar: Benign/Likely benign (not provided; not specified)
- EBI: Benign (in dbSNP:rs17495042)
- UniProt: Benign (in dbSNP:rs17495042)
- Most common in the HGDP:MANDENKA population (allele frequency 0.075)
- Structural context available