A77T (p.Ala77Thr) variant of CDH2 (Cadherin-2)
A77T (p.Ala77Thr) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar 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 0.27 / 1. The record also includes population frequency data and structural context.
A77T (p.Ala77Thr) variant details
- p.Ala77Thr
- rs767296927
- ExAC rs767296927
- gnomAD rs767296927
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.05
- MetaLR 0.07
- MetaSVM -1.00
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.49
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available