P29L (p.Pro29Leu) variant of KMT2C (Q8NEZ4)
P29L (p.Pro29Leu) in KMT2C (Q8NEZ4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- rs2097911322
- ClinGen CA370104347
- ClinVar RCV001889919
- TOPMed rs2097911322
- Uncertain significance
- not provided
- Missense
- REVEL 0.20
- CADD 20.20
- PolyPhen-2 0.02
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)