M1T (p.Met1Thr) variant of KMT2D (O14686)
M1T (p.Met1Thr) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1057520167
- ClinGen CA16603307
- ClinVar RCV000444887
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- MetaLR 0.71
- MetaSVM 0.56
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.99
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available