P5H (p.Pro5His) variant of ADNP (Q9H2P0)
P5H (p.Pro5His) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes experimental measurements and structural context.
P5H (p.Pro5His) variant details
- p.Pro5His
- rs2122841043
- ClinGen CA408982626
- ClinVar RCV002275432
- Ensembl rs2122841043
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- ADNP Homeobox domain domainome 1.0: score -0.527