A11S (p.Ala11Ser) variant of CNTNAP2 (Q9UHC6)
A11S (p.Ala11Ser) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- gnomAD 7-146116907-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.44
- MetaLR 0.65
- MetaSVM 0.26
- CADD 23.50
- PolyPhen-2 0.94
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available