S30P (p.Ser30Pro) variant of CNTNAP2 (Q9UHC6)
S30P (p.Ser30Pro) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S30P (p.Ser30Pro) variant details
- p.Ser30Pro
- gnomAD 7-146116964-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.21
- MetaLR 0.29
- MetaSVM -0.94
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available