E37G (p.Glu37Gly) variant of CNTNAP2 (Q9UHC6)
E37G (p.Glu37Gly) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E37G (p.Glu37Gly) variant details
- p.Glu37Gly
- gnomAD 7-146774283-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.44
- MetaLR 0.42
- MetaSVM -0.39
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available