S46P (p.Ser46Pro) variant of KMT2C (Q8NEZ4)
S46P (p.Ser46Pro) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
S46P (p.Ser46Pro) variant details
- p.Ser46Pro
- gnomAD rs2097911007
- Missense
- REVEL 0.36
- CADD 25.40
- PolyPhen-2 0.67
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.5e-05)