P18H (p.Pro18His) variant of KMT2C (Q8NEZ4)
P18H (p.Pro18His) in KMT2C (Q8NEZ4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and population frequency data.
P18H (p.Pro18His) variant details
- p.Pro18His
- ExAC rs758889240
- gnomAD rs758889240
- Likely benign
- Missense
- REVEL 0.38
- CADD 22.50
- PolyPhen-2 0.41
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available