S32F (p.Ser32Phe) variant of CNTNAP2 (Q9UHC6)
S32F (p.Ser32Phe) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S32F (p.Ser32Phe) variant details
- p.Ser32Phe
- gnomAD 7-146116971-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.21
- MetaLR 0.44
- MetaSVM -0.39
- CADD 23.80
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available