G10E (p.Gly10Glu) variant of CNTNAP2 (Q9UHC6)
G10E (p.Gly10Glu) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G10E (p.Gly10Glu) variant details
- p.Gly10Glu
- rs886044541
- ClinGen CA10606887
- ClinVar RCV000331272
- Ensembl rs886044541
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.24
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available