H24L (p.His24Leu) variant of CTNNB1 (Catenin beta-1)
H24L (p.His24Leu) in CTNNB1 (Catenin beta-1) 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 0.28 / 1. The record also includes structural context.
H24L (p.His24Leu) variant details
- p.His24Leu
- rs2125617021
- ClinGen CA352228449
- ClinVar RCV003048931
- Ensembl rs2125617021
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- AlphaMissense 0.62
- MetaLR 0.09
- MetaSVM -1.09
- PolyPhen-2 0.00
- SIFT 0.19
- EVE 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available