A24P (p.Ala24Pro) variant of KMT2C (Q8NEZ4)
A24P (p.Ala24Pro) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
A24P (p.Ala24Pro) variant details
- p.Ala24Pro
- gnomAD rs1419470681
- Missense
- REVEL 0.40
- CADD 24.10
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)