H37N (p.His37Asn) variant of KMT2D (O14686)
H37N (p.His37Asn) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
H37N (p.His37Asn) variant details
- p.His37Asn
- TOPMed rs1243381790
- gnomAD rs1243381790
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.27
- MetaLR 0.21
- MetaSVM -0.87
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available