N35K (p.Asn35Lys) variant of KMT2D (O14686)
N35K (p.Asn35Lys) in KMT2D (O14686) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N35K (p.Asn35Lys) variant details
- p.Asn35Lys
- TOPMed rs1938321127
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.26
- MetaLR 0.19
- MetaSVM -0.92
- CADD 1.78
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available