C21R (p.Cys21Arg) variant of CNTNAP2 (Q9UHC6)
C21R (p.Cys21Arg) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
C21R (p.Cys21Arg) variant details
- p.Cys21Arg
- gnomAD rs1295468688
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.26
- CADD 4.19
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.1e-05)
- Structural context available