D105V (p.Asp105Val) variant of SFTPC (Surfactant protein C)
D105V (p.Asp105Val) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Surfactant metabolism dysfunction, pulmonary, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
D105V (p.Asp105Val) variant details
- p.Asp105Val
- rs2131817329
- ClinGen CA370537500
- ClinVar RCV001808056
- Ensembl rs2131817329
- Likely pathogenic
- Surfactant metabolism dysfunction, pulmonary, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 0.81
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.80
- ClinVar: Likely pathogenic (Surfactant metabolism dysfunction, pulmonary, 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available