N39S (p.Asn39Ser) variant of KMT2E (Histone reader KMT2E)
N39S (p.Asn39Ser) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
N39S (p.Asn39Ser) variant details
- p.Asn39Ser
- ExAC rs779099178
- gnomAD rs779099178
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.33
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available