G101D (p.Gly101Asp) variant of CREBBP (CREB-binding protein)
G101D (p.Gly101Asp) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G101D (p.Gly101Asp) variant details
- p.Gly101Asp
- Ensembl rs2141495270
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.26
- CADD 18.10
- PolyPhen-2 0.34
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available