L22I (p.Leu22Ile) variant of CNTNAP2 (Q9UHC6)
L22I (p.Leu22Ile) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L22I (p.Leu22Ile) variant details
- p.Leu22Ile
- gnomAD 7-146116940-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.21
- MetaLR 0.40
- MetaSVM -0.86
- CADD 6.92
- PolyPhen-2 0.01
- SIFT 0.67
- Population evidence available
- Structural context available
- Literature evidence available