L1633R (p.Leu1633Arg) variant of EP300 (Histone acetyltransferase p300)
L1633R (p.Leu1633Arg) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Menke-Hennekam syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
L1633R (p.Leu1633Arg) variant details
- p.Leu1633Arg
- rs2145512909
- ClinGen CA411707162
- ClinVar RCV003330153
- Likely pathogenic
- Menke-Hennekam syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.78
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.45
- ClinVar: Likely pathogenic (Menke-Hennekam syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available