N39I (p.Asn39Ile) variant of KMT2E (Histone reader KMT2E)
N39I (p.Asn39Ile) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
N39I (p.Asn39Ile) variant details
- p.Asn39Ile
- gnomAD 7-105062208-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.42
- CADD 26.20
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available