R33S (p.Arg33Ser) variant of CHM (P24386)
R33S (p.Arg33Ser) 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 0.30 / 1. The record also includes structural context.
R33S (p.Arg33Ser) variant details
- p.Arg33Ser
- rs1933877094
- ClinGen CA413787915
- ClinVar RCV001308436
- TOPMed rs1933877094
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- AlphaMissense 0.32
- MetaLR 0.09
- MetaSVM -1.11
- PolyPhen-2 0.15
- SIFT 0.13
- EVE 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available