G1375V (p.Gly1375Val) variant of EP300 (Histone acetyltransferase p300)
G1375V (p.Gly1375Val) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Rubinstein-Taybi syndrome due to EP300 haploinsufficiency. The record also includes structural context.
G1375V (p.Gly1375Val) variant details
- p.Gly1375Val
- Ensembl rs2145763762
- Likely pathogenic
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to EP300 haploinsufficiency)
- UniProt: Likely pathogenic
- Structural context available