S20I (p.Ser20Ile) variant of CNTNAP2 (Q9UHC6)
S20I (p.Ser20Ile) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S20I (p.Ser20Ile) variant details
- p.Ser20Ile
- gnomAD 7-146116935-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.35
- MetaLR 0.44
- MetaSVM -0.22
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available