D36E (p.Asp36Glu) variant of CNTNAP2 (Q9UHC6)
D36E (p.Asp36Glu) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D36E (p.Asp36Glu) variant details
- p.Asp36Glu
- gnomAD 7-146774281-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.47
- MetaLR 0.48
- MetaSVM -0.50
- CADD 13.00
- PolyPhen-2 0.05
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available