A17P (p.Ala17Pro) variant of KMT2D (O14686)
A17P (p.Ala17Pro) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A17P (p.Ala17Pro) variant details
- p.Ala17Pro
- TOPMed rs1323918085
- gnomAD rs1323918085
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.32
- AlphaMissense 0.24
- MetaLR 0.61
- MetaSVM 0.15
- CADD 34.00
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available