Q40R (p.Gln40Arg) variant of ADNP (Q9H2P0)
Q40R (p.Gln40Arg) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q40R (p.Gln40Arg) variant details
- p.Gln40Arg
- ExAC rs779504010
- TOPMed rs779504010
- gnomAD rs779504010
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 22.70
- PolyPhen-2 0.35
- SIFT 0.36
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- ADNP Homeobox domain domainome 1.0: score -0.137