S46Y (p.Ser46Tyr) variant of KMT2C (Q8NEZ4)
S46Y (p.Ser46Tyr) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
S46Y (p.Ser46Tyr) variant details
- p.Ser46Tyr
- cosmic curated COSV51493
- Ensembl rs867190035
- Missense
- REVEL 0.47
- CADD 25.30
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)