C5F (p.Cys5Phe) variant of KMT2A (Q03164)
C5F (p.Cys5Phe) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
C5F (p.Cys5Phe) variant details
- p.Cys5Phe
- gnomAD 11-118436526-G-T
- Missense
- REVEL 0.59
- CADD 26.80
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Literature evidence available