R24I (p.Arg24Ile) variant of CNTNAP2 (Q9UHC6)
R24I (p.Arg24Ile) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R24I (p.Arg24Ile) variant details
- p.Arg24Ile
- gnomAD 7-146116947-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.40
- MetaLR 0.44
- MetaSVM -0.42
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available