S3P (p.Ser3Pro) variant of KMT2C (Q8NEZ4)
S3P (p.Ser3Pro) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
S3P (p.Ser3Pro) variant details
- p.Ser3Pro
- Ensembl rs2097912165
- Missense
- REVEL 0.21
- CADD 23.30
- PolyPhen-2 0.06
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)