C28Y (p.Cys28Tyr) variant of SFTPC (Surfactant protein C)
C28Y (p.Cys28Tyr) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar and UniProt describe it as likely risk allele in the context of Pulmonary fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
C28Y (p.Cys28Tyr) variant details
- p.Cys28Tyr
- rs1458422311
- ClinGen CA370536693
- ClinVar RCV002509792
- NCI-TCGA TCGA novel
- Likely risk allele
- Pulmonary fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Likely risk allele (Pulmonary fibrosis)
- UniProt: Likely risk allele
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available