G101V (p.Gly101Val) variant of CREBBP (CREB-binding protein)
G101V (p.Gly101Val) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G101V (p.Gly101Val) variant details
- p.Gly101Val
- Ensembl rs2141495270
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.28
- CADD 21.70
- PolyPhen-2 0.44
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available