P38L (p.Pro38Leu) variant of CNTNAP2 (Q9UHC6)
P38L (p.Pro38Leu) 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, published literature, and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- gnomAD 7-146774286-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.42
- MetaLR 0.75
- MetaSVM 0.64
- CADD 22.60
- PolyPhen-2 0.17
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available