P15Q (p.Pro15Gln) variant of KMT2D (O14686)
P15Q (p.Pro15Gln) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
P15Q (p.Pro15Gln) variant details
- p.Pro15Gln
- rs756336640
- ClinGen CA384691219
- ClinVar RCV003239240
- ExAC rs756336640
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.11
- MetaLR 0.28
- MetaSVM -0.54
- PolyPhen-2 0.33
- SIFT 0.00
- MutPred 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available