P72R (p.Pro72Arg) variant of KMT2E (Histone reader KMT2E)
P72R (p.Pro72Arg) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
P72R (p.Pro72Arg) variant details
- p.Pro72Arg
- TOPMed rs747436302
- gnomAD rs747436302
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.65
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available