H458N (p.His458Asn) variant of MSH6 (DNA mismatch repair protein Msh6)
H458N (p.His458Asn) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lynch-like syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
H458N (p.His458Asn) variant details
- p.His458Asn
- rs1669325562
- ClinGen CA346744913
- ClinVar RCV001249968
- Ensembl rs1669325562
- Likely pathogenic
- Lynch-like syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Likely pathogenic (Lynch-like syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available