R70C (p.Arg70Cys) variant of ADNP (Q9H2P0)
R70C (p.Arg70Cys) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R70C (p.Arg70Cys) variant details
- p.Arg70Cys
- rs1980482759
- gnomAD 20-50889942-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0937
- CADD 1.84
- Most common in the Ashkenazi Jewish population (allele frequency 0.00011)
- Structural context available
- Literature evidence available