A3V (p.Ala3Val) variant of CNTNAP2 (Q9UHC6)
A3V (p.Ala3Val) 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 0.14 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.18
- CADD 2.91
- PolyPhen-2 0.00
- SIFT 0.47
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available