N46S (p.Asn46Ser) variant of CHM (P24386)
N46S (p.Asn46Ser) 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 population frequency data and structural context.
N46S (p.Asn46Ser) variant details
- p.Asn46Ser
- rs2147712502
- ClinGen CA413788353
- ClinVar RCV001974191
- Ensembl rs2147712502
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.17
- MetaLR 0.24
- MetaSVM -0.82
- CADD 22.70
- PolyPhen-2 0.35
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available