V18I (p.Val18Ile) variant of CNTNAP2 (Q9UHC6)
V18I (p.Val18Ile) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V18I (p.Val18Ile) variant details
- p.Val18Ile
- gnomAD 7-146116928-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.14
- MetaLR 0.39
- MetaSVM -0.74
- CADD 9.65
- PolyPhen-2 0.01
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available