F48S (p.Phe48Ser) variant of KMT2C (Q8NEZ4)
F48S (p.Phe48Ser) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
F48S (p.Phe48Ser) variant details
- p.Phe48Ser
- cosmic curated COSV10726
- Ensembl rs2116821200
- Missense
- REVEL 0.38
- CADD 24.40
- PolyPhen-2 0.67
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)