A24D (p.Ala24Asp) variant of KMT2C (Q8NEZ4)
A24D (p.Ala24Asp) in KMT2C (Q8NEZ4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and population frequency data.
A24D (p.Ala24Asp) variant details
- p.Ala24Asp
- ExAC rs768439100
- TOPMed rs768439100
- gnomAD rs768439100
- Likely benign
- Missense
- REVEL 0.45
- CADD 24.70
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available