A7T (p.Ala7Thr) variant of CNTNAP2 (Q9UHC6)
A7T (p.Ala7Thr) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- rs1064795189
- TOPMed rs1064795189
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.14
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available