K38N (p.Lys38Asn) variant of PHF6 (PHD finger protein 6)
K38N (p.Lys38Asn) in PHF6 (PHD finger protein 6) 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 structural context.
K38N (p.Lys38Asn) variant details
- p.Lys38Asn
- rs2520468088
- ClinGen CA414710844
- ClinVar RCV003887392
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available