I17L (p.Ile17Leu) variant of CNTNAP2 (Q9UHC6)
I17L (p.Ile17Leu) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I17L (p.Ile17Leu) variant details
- p.Ile17Leu
- gnomAD rs982512594
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.21
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available