A17T (p.Ala17Thr) variant of FH (P07954)
A17T (p.Ala17Thr) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The record also includes structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- ExAC rs755886213
- gnomAD rs755886213
- Likely benign
- not provided
- Missense
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available