T94S (p.Thr94Ser) variant of CHM (P24386)
T94S (p.Thr94Ser) 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 0.31 / 1. The record also includes structural context.
T94S (p.Thr94Ser) variant details
- p.Thr94Ser
- rs1931432079
- ClinGen CA413787841
- ClinVar RCV001305971
- Ensembl rs1931432079
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- AlphaMissense 0.16
- MetaLR 0.17
- MetaSVM -0.90
- PolyPhen-2 0.02
- SIFT 0.13
- EVE 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available