A24V (p.Ala24Val) variant of CREBBP (CREB-binding protein)
A24V (p.Ala24Val) 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 Rubinstein-Taybi syndrome due to CREBBP mutations; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- rs797045501
- ClinGen CA208770
- ClinVar RCV000194538
- ClinVar RCV005860031
- Uncertain significance
- Rubinstein-Taybi syndrome due to CREBBP mutations; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- CADD 1.00
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome due to CREBBP mutations; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)