S22F (p.Ser22Phe) variant of CDH2 (Cadherin-2)
S22F (p.Ser22Phe) in CDH2 (Cadherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S22F (p.Ser22Phe) variant details
- p.Ser22Phe
- Ensembl rs2144327457
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.21
- MetaLR 0.10
- MetaSVM -1.00
- CADD 22.70
- PolyPhen-2 0.09
- SIFT 0.07
- Population evidence available
- Structural context available