P80L (p.Pro80Leu) variant of KMT2E (Histone reader KMT2E)
P80L (p.Pro80Leu) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P80L (p.Pro80Leu) variant details
- p.Pro80Leu
- cosmic curated COSV10634
- ExAC rs765432325
- gnomAD rs765432325
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.55
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available