L18V (p.Leu18Val) variant of EP300 (Histone acetyltransferase p300)
L18V (p.Leu18Val) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Rubinstein-Taybi syndrome due to EP300 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- ExAC rs777392825
- TOPMed rs777392825
- gnomAD rs777392825
- Likely benign
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.38
- CADD 25.80
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Likely benign (Rubinstein-Taybi syndrome due to EP300 haploinsufficiency)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available