C5Y (p.Cys5Tyr) variant of KMT2A (Q03164)
C5Y (p.Cys5Tyr) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
C5Y (p.Cys5Tyr) variant details
- p.Cys5Tyr
- gnomAD 11-118436526-G-A
- Missense
- REVEL 0.59
- CADD 26.50
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Literature evidence available