A7S (p.Ala7Ser) variant of CNTNAP2 (Q9UHC6)
A7S (p.Ala7Ser) 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 0.20 / 1. The record also includes population frequency data and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- rs1064795189
- ClinGen CA16618368
- ClinVar RCV000487185
- TOPMed rs1064795189
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.14
- CADD 13.80
- PolyPhen-2 0.04
- SIFT 0.53
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available