M1V (p.Met1Val) variant of ADNP (Q9H2P0)
M1V (p.Met1Val) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes experimental measurements and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2515621772
- ClinGen CA408982673
- ClinVar RCV003041388
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- ADNP Homeobox domain domainome 1.0: score -0.213