A53T (p.Ala53Thr) variant of SFTPC (Surfactant protein C)
A53T (p.Ala53Thr) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Interstitial lung disease 2; Surfactant metabolism dysfunction, pu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A53T (p.Ala53Thr) variant details
- p.Ala53Thr
- rs200039720
- ClinGen CA4663916
- ClinVar RCV001163545
- ClinVar RCV001163546
- Conflicting interpretations
- not provided; Interstitial lung disease 2; Surfactant metabolism dysfunction, pu
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (not provided; Interstitial lung disease 2; Surfactant metabolism)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 0.00022)
- Structural context available
- Cited in: Pulmonary Fibrosis Predisposition Overview. (PMID 20301408)