V63M (p.Val63Met) variant of KMT2D (O14686)
V63M (p.Val63Met) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V63M (p.Val63Met) variant details
- p.Val63Met
- ExAC rs767327365
- TOPMed rs767327365
- gnomAD rs767327365
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.24
- MetaLR 0.29
- MetaSVM -0.77
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.28
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available