I82V (p.Ile82Val) variant of CREBBP (CREB-binding protein)
I82V (p.Ile82Val) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
I82V (p.Ile82Val) variant details
- p.Ile82Val
- rs374701416
- ClinGen CA7870717
- ClinVar RCV001767292
- ESP rs374701416
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.15
- CADD 17.40
- PolyPhen-2 0.19
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available