R6L (p.Arg6Leu) variant of CNTNAP2 (Q9UHC6)
R6L (p.Arg6Leu) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R6L (p.Arg6Leu) variant details
- p.Arg6Leu
- gnomAD 7-146116893-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.26
- MetaLR 0.45
- MetaSVM -0.51
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available