K13R (p.Lys13Arg) variant of CREBBP (CREB-binding protein)
K13R (p.Lys13Arg) 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 0.66 / 1. The record also includes structural context.
K13R (p.Lys13Arg) variant details
- p.Lys13Arg
- rs2141616347
- ClinGen CA394567870
- ClinVar RCV001768769
- Ensembl rs2141616347
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- AlphaMissense 0.10
- MetaLR 0.84
- MetaSVM 0.67
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available