N39Y (p.Asn39Tyr) variant of KMT2E (Histone reader KMT2E)
N39Y (p.Asn39Tyr) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
N39Y (p.Asn39Tyr) variant details
- p.Asn39Tyr
- Ensembl rs1484332708
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.43
- CADD 26.30
- PolyPhen-2 0.90
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available