S3A (p.Ser3Ala) variant of KMT2C (Q8NEZ4)
S3A (p.Ser3Ala) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
S3A (p.Ser3Ala) variant details
- p.Ser3Ala
- Ensembl rs2097912165
- Missense
- REVEL 0.24
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the HGDP:BEDOUIN population (allele frequency 0.013)