H52N (p.His52Asn) variant of KMT2E (Histone reader KMT2E)
H52N (p.His52Asn) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
H52N (p.His52Asn) variant details
- p.His52Asn
- ExAC rs761573835
- gnomAD rs761573835
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.36
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available