H64Q (p.His64Gln) variant of SFTPC (Surfactant protein C)
H64Q (p.His64Gln) in SFTPC (Surfactant protein C) 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 0.86 / 1. The record also includes structural context.
H64Q (p.His64Gln) variant details
- p.His64Gln
- rs2131815446
- ClinGen CA370536993
- ClinVar RCV002276254
- Ensembl rs2131815446
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 0.89
- MetaLR 0.86
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.83
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available