F219S (p.Phe219Ser) variant of CASK (O14936)
F219S (p.Phe219Ser) in CASK (O14936) 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 0.69 / 1. The record also includes population frequency data and structural context.
F219S (p.Phe219Ser) variant details
- p.Phe219Ser
- rs1189980578
- ClinGen CA412997843
- ClinVar RCV001756782
- gnomAD rs1189980578
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.75
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available