F30V (p.Phe30Val) variant of CREBBP (CREB-binding protein)
F30V (p.Phe30Val) in CREBBP (CREB-binding protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
F30V (p.Phe30Val) variant details
- p.Phe30Val
- NCI-TCGA Cosmic COSV9926
- cosmic curated COSV99269
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- CADD 3.62
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available