R12L (p.Arg12Leu) variant of KMT2A (Q03164)
R12L (p.Arg12Leu) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions and population frequency data.
R12L (p.Arg12Leu) variant details
- p.Arg12Leu
- cosmic curated COSV63288
- gnomAD rs1555138470
- Missense
- REVEL 0.58
- MetaLR 0.55
- MetaSVM 0.16
- CADD 27.10
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.3e-05)