T54I (p.Thr54Ile) variant of KMT2D (O14686)
T54I (p.Thr54Ile) in KMT2D (O14686) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Kabuki syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T54I (p.Thr54Ile) variant details
- p.Thr54Ile
- gnomAD rs1187636945
- Benign
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.38
- AlphaMissense 0.07
- MetaLR 0.28
- MetaSVM -0.71
- CADD 19.40
- PolyPhen-2 0.00
- ClinVar: Benign (Kabuki syndrome)
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available