K53N (p.Lys53Asn) variant of KMT2C (Q8NEZ4)
K53N (p.Lys53Asn) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
K53N (p.Lys53Asn) variant details
- p.Lys53Asn
- cosmic curated COSV51422
- Ensembl rs2097910830
- Missense
- REVEL 0.21
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available