L13I (p.Leu13Ile) variant of CNTNAP2 (Q9UHC6)
L13I (p.Leu13Ile) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L13I (p.Leu13Ile) variant details
- p.Leu13Ile
- gnomAD 7-146116913-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.15
- MetaLR 0.40
- MetaSVM -0.50
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available