A4S (p.Ala4Ser) variant of CNTNAP2 (Q9UHC6)
A4S (p.Ala4Ser) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD 7-146116886-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.16
- MetaLR 0.39
- MetaSVM -0.66
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available