V39L (p.Val39Leu) variant of SFTPC (Surfactant protein C)
V39L (p.Val39Leu) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V39L (p.Val39Leu) variant details
- p.Val39Leu
- rs183533911
- ClinGen CA4663906
- cosmic curated COSV59346
- ClinVar RCV000315399
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 21.10
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:LAHU population (allele frequency 0.1)
- Structural context available
- Cited in: Pulmonary Fibrosis Predisposition Overview. (PMID 20301408)