L13P (p.Leu13Pro) variant of CNTNAP2 (Q9UHC6)
L13P (p.Leu13Pro) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- gnomAD 7-146116914-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.59
- MetaLR 0.43
- MetaSVM -0.17
- CADD 24.60
- PolyPhen-2 0.07
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available