A21S (p.Ala21Ser) variant of CDH2 (Cadherin-2)
A21S (p.Ala21Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A21S (p.Ala21Ser) variant details
- p.Ala21Ser
- rs17495042
- ClinGen CA402244776
- ClinVar RCV001876425
- 1000Genomes rs17495042
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.12
- MetaLR 0.09
- MetaSVM -1.05
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.52
- ClinVar: Uncertain significance (not provided)
- EBI: Benign (in dbSNP:rs17495042)
- UniProt: Benign (in dbSNP:rs17495042)
- Population evidence available
- Structural context available