F219C (p.Phe219Cys) variant of CASK (O14936)
F219C (p.Phe219Cys) in CASK (O14936) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
F219C (p.Phe219Cys) variant details
- p.Phe219Cys
- gnomAD rs1189980578
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.77
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available