P14R (p.Pro14Arg) variant of KMT2C (Q8NEZ4)
P14R (p.Pro14Arg) 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.
P14R (p.Pro14Arg) variant details
- p.Pro14Arg
- rs2097911816
- ClinGen CA370104566
- ClinVar RCV001213183
- Ensembl rs2097911816
- Uncertain significance
- not provided
- Missense
- AlphaMissense 0.22
- MetaLR 0.22
- MetaSVM -0.75
- PolyPhen-2 0.82
- SIFT 0.09
- MutPred 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance