D43Y (p.Asp43Tyr) variant of KMT2C (Q8NEZ4)
D43Y (p.Asp43Tyr) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
D43Y (p.Asp43Tyr) variant details
- p.Asp43Tyr
- cosmic curated COSV51432
- gnomAD rs1327515855
- Missense
- REVEL 0.50
- CADD 25.20
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available