P29H (p.Pro29His) variant of KMT2C (Q8NEZ4)
P29H (p.Pro29His) in KMT2C (Q8NEZ4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
P29H (p.Pro29His) variant details
- p.Pro29His
- TOPMed rs2097911322
- Uncertain significance
- Missense
- REVEL 0.35
- CADD 22.80
- PolyPhen-2 0.28
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available