H122N (p.His122Asn) variant of CHM (P24386)
H122N (p.His122Asn) 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.
H122N (p.His122Asn) variant details
- p.His122Asn
- rs1311851637
- ClinGen CA413787346
- ClinVar RCV003692150
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- AlphaMissense 0.08
- MetaLR 0.09
- MetaSVM -1.05
- PolyPhen-2 0.02
- SIFT 0.59
- MutPred 0.65
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available