S32C (p.Ser32Cys) variant of CNTNAP2 (Q9UHC6)
S32C (p.Ser32Cys) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S32C (p.Ser32Cys) variant details
- p.Ser32Cys
- ExAC rs748064330
- gnomAD rs748064330
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.27
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available