S4R (p.Ser4Arg) variant of KMT2A (Q03164)
S4R (p.Ser4Arg) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions and population frequency data.
S4R (p.Ser4Arg) variant details
- p.Ser4Arg
- cosmic curated COSV63294
- 1000Genomes rs1555138445
- gnomAD rs1555138445
- Missense
- REVEL 0.49
- MetaLR 0.38
- MetaSVM -0.20
- CADD 23.60
- PolyPhen-2 0.36
- SIFT 0.00
- Most common in the 1KG:PUR population (allele frequency 0.0051)