G42E (p.Gly42Glu) variant of CNTNAP2 (Q9UHC6)
G42E (p.Gly42Glu) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G42E (p.Gly42Glu) variant details
- p.Gly42Glu
- rs771874359
- ExAC rs771874359
- gnomAD rs771874359
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.22
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.32
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available