A62P (p.Ala62Pro) variant of KMT2E (Histone reader KMT2E)
A62P (p.Ala62Pro) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
A62P (p.Ala62Pro) variant details
- p.Ala62Pro
- gnomAD rs1796846071
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.60
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available