P55A (p.Pro55Ala) variant of KMT2C (Q8NEZ4)
P55A (p.Pro55Ala) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P55A (p.Pro55Ala) variant details
- p.Pro55Ala
- gnomAD rs2097171770
- Missense
- REVEL 0.32
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)