S145L (p.Ser145Leu) variant of CHM (P24386)
S145L (p.Ser145Leu) in CHM (P24386) 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 0.34 / 1. The record also includes structural context.
S145L (p.Ser145Leu) variant details
- p.Ser145Leu
- rs1555954612
- ClinGen CA413787195
- ClinVar RCV000593740
- Ensembl rs1555954612
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- AlphaMissense 0.08
- MetaLR 0.17
- MetaSVM -0.97
- PolyPhen-2 0.00
- SIFT 0.18
- MutPred 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available