N121H (p.Asn121His) variant of CHM (P24386)
N121H (p.Asn121His) 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 0.39 / 1. The record also includes structural context.
N121H (p.Asn121His) variant details
- p.Asn121His
- rs2147676418
- ClinGen CA413787352
- ClinVar RCV001988249
- Ensembl rs2147676418
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- AlphaMissense 0.09
- MetaLR 0.30
- MetaSVM -0.55
- PolyPhen-2 1.00
- SIFT 0.04
- MutPred 0.60
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available