L54F (p.Leu54Phe) variant of KRIT1 (O00522)
L54F (p.Leu54Phe) in KRIT1 (O00522) is a missense change. The record also includes structural context.
L54F (p.Leu54Phe) variant details
- p.Leu54Phe
- cosmic curated COSV60669
- Missense
- Structural context available