A17V (p.Ala17Val) variant of KMT2D (O14686)
A17V (p.Ala17Val) 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 0.50 / 1. The record also includes population frequency data and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- ExAC rs769271092
- gnomAD rs769271092
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.32
- MetaLR 0.56
- MetaSVM 0.30
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available