L43F (p.Leu43Phe) variant of CNTNAP2 (Q9UHC6)
L43F (p.Leu43Phe) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L43F (p.Leu43Phe) variant details
- p.Leu43Phe
- gnomAD rs1289290635
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.70
- CADD 22.50
- PolyPhen-2 0.38
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available