Q24H (p.Gln24His) variant of CSRP3 (P50461)
Q24H (p.Gln24His) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
Q24H (p.Gln24His) variant details
- p.Gln24His
- rs1590106178
- ClinGen CA379888556
- ClinVar RCV003167980
- Ensembl rs1590106178
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- AlphaMissense 0.75
- MetaLR 0.86
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.45
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available