L15Q (p.Leu15Gln) variant of CNTNAP2 (Q9UHC6)
L15Q (p.Leu15Gln) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L15Q (p.Leu15Gln) variant details
- p.Leu15Gln
- Ensembl rs1797491896
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.55
- CADD 27.00
- PolyPhen-2 0.80
- SIFT 0.01
- Population evidence available
- Structural context available