R35H (p.Arg35His) variant of SFTPC (Surfactant protein C)
R35H (p.Arg35His) 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 SFTPC-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R35H (p.Arg35His) variant details
- p.Arg35His
- TOPMed rs1200065902
- gnomAD rs1200065902
- Uncertain significance
- SFTPC-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (SFTPC-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available