L43I (p.Leu43Ile) variant of CNTNAP2 (Q9UHC6)
L43I (p.Leu43Ile) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L43I (p.Leu43Ile) variant details
- p.Leu43Ile
- gnomAD 7-146774300-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.62
- MetaLR 0.82
- MetaSVM 0.65
- CADD 23.50
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available