A12S (p.Ala12Ser) variant of CNTNAP2 (Q9UHC6)
A12S (p.Ala12Ser) 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, published literature, and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- gnomAD 7-146116910-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.28
- MetaLR 0.42
- MetaSVM -0.32
- CADD 20.10
- PolyPhen-2 0.03
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available