R6R (p.Arg6Arg) variant of CNTNAP2 (Q9UHC6)
R6R (p.Arg6Arg) in CNTNAP2 (Q9UHC6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R6R (p.Arg6Arg) variant details
- p.Arg6Arg
- rs748908765
- gnomAD 7-146116894-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 8.61
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available