K54N (p.Lys54Asn) variant of KMT2C (Q8NEZ4)
K54N (p.Lys54Asn) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
K54N (p.Lys54Asn) variant details
- p.Lys54Asn
- Ensembl rs2097171791
- Missense
- REVEL 0.27
- CADD 22.30
- PolyPhen-2 0.07
- SIFT 0.00
- Population evidence available