C1729R (p.Cys1729Arg) variant of CREBBP (CREB-binding protein)
C1729R (p.Cys1729Arg) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Cone-rod dystrophy; Menke-Hennekam syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
C1729R (p.Cys1729Arg) variant details
- p.Cys1729Arg
- Ensembl rs2151312694
- Likely pathogenic
- Cone-rod dystrophy; Menke-Hennekam syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Cone-rod dystrophy; Menke-Hennekam syndrome 1)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available