C5R (p.Cys5Arg) variant of KMT2A (Q03164)
C5R (p.Cys5Arg) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
C5R (p.Cys5Arg) variant details
- p.Cys5Arg
- gnomAD 11-118436525-T-C
- Missense
- REVEL 0.58
- CADD 27.20
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Literature evidence available