S32L (p.Ser32Leu) variant of CREBBP (CREB-binding protein)
S32L (p.Ser32Leu) 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 0.63 / 1. The record also includes structural context.
S32L (p.Ser32Leu) variant details
- p.Ser32Leu
- rs865788612
- NCI-TCGA Cosmic COSV5212
- cosmic curated COSV52123
- Ensembl rs865788612
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- AlphaMissense 0.11
- MetaLR 0.75
- MetaSVM 0.58
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available