V95M (p.Val95Met) variant of CREBBP (CREB-binding protein)
V95M (p.Val95Met) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Rubinstein-Taybi syndrome; not provided; Rubinstein-Taybi syndrome due to CREBBP. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V95M (p.Val95Met) variant details
- p.Val95Met
- rs756802946
- ClinGen CA7870703
- cosmic curated COSV10608
- ClinVar RCV000989513
- Conflicting interpretations
- Rubinstein-Taybi syndrome; not provided; Rubinstein-Taybi syndrome due to CREBBP
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.32
- CADD 23.30
- PolyPhen-2 0.74
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Rubinstein-Taybi syndrome; not provided; Rubinstein-Taybi syndro)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)